KR102623609B1 - Method and system for providing analysis results for genetic information - Google Patents

Abstract

The present disclosure provides a method for providing genetic information analysis results performed by at least one processor. The method includes outputting a user interface for providing genetic information analysis results for a sample and, in response to user input received through the user interface, interactive response information containing details of the genetic information analysis results. It may include outputting to at least one area included in the user interface. In the first area included in the user interface, a list of genes associated with a specific disease is displayed, and in the second area included in the user interface, information about variants obtained by analysis of the sample is visualized. A first browser for searching may be displayed, and a second browser for searching sequence information obtained by analyzing a sample may be displayed in a third area included in the user interface.

Description

Method and system for providing genetic information analysis results {METHOD AND SYSTEM FOR PROVIDING ANALYSIS RESULTS FOR GENETIC INFORMATION}

The present disclosure relates to a method of providing genetic information analysis results, and specifically, to a method and system for providing genetic information analysis results to a user using a user interface that includes a plurality of browsers.

Recently, research has been actively conducted to identify genes related to human diseases. Among these, projects are actively underway to decode the entire genome containing the human genetic information, create a genetic map, and analyze it to predict the occurrence of human disease or diagnose the disease that has occurred.

In order to predict or diagnose a disease, the project compares the base sequence of the test subject with the reference base sequence to identify the base sequence of the test subject in which a mutation occurred, and derives a disease correlation for the test subject based on the identified base sequence. It can be done.

To effectively realize these projects, Next Generation Sequencing (NGS) technology is being used. Next-generation sequencing technology performs sequencing by synthesis of fragmented DNA (deoxyribonucleic acid) to generate a large amount of base sequences. For example, when next-generation sequencing is performed using an Illumina sequencing device, DNA fragments are read and an image file in which the bases are displayed with a fluorescent substance is created. Afterwards, the fluorescent material included in the image file is converted into a base sequence, which is a set of computer-readable characters, and the base sequence is aligned (mapped) based on the reference base sequence. By comparing the aligned base sequence and the reference sequence, the location and gene where the mutation occurred are identified.

Based on the location and gene where the mutation occurred, a report predicting human disease is generated and provided to medical experts. Based on the report, medical experts can predict the test subject's disease early or accurately diagnose the test subject's disease. Through this, an appropriate treatment plan can be established.

Meanwhile, medical experts also check detailed analysis results and/or related data that serve as the basis for writing reports in order to establish more accurate treatment plans. In this case, medical professionals can access the database and search for patient-related data. For example, if a medical professional wants to check all analysis data for a specific chromosome and genetic information associated with a specific chromosome, a medical professional must access the database and search each data one by one. At this time, medical experts can search for the data through search using search terms.

This method of medical experts accessing databases and obtaining necessary data can reduce the medical experts' work efficiency and convenience.

Meanwhile, applications are provided that provide detailed analysis results and/or some of the related data that serve as the basis for creating reports. However, these applications only provide fragmented or uniform detailed data and fail to provide the diverse information required by medical experts.

The present disclosure provides a method for providing genetic information analysis results, a computer program stored in a recording medium, and a device (system) to solve the above problems.

The present disclosure may be implemented in various ways, including as a method, device (system), and/or a computer program stored in a computer-readable storage medium.

According to an embodiment of the present disclosure, a method of providing genetic information analysis results performed by at least one processor includes outputting a user interface for providing genetic information analysis results for a specimen, and a user interface received through the user interface. In response to the input, outputting interactive response information including detailed information of the genetic information analysis result to at least one area included in the user interface, wherein the first area included in the user interface includes: A list of genes associated with a specific disease is output, and in the second area included in the user interface, a first browser for visualizing and exploring information about variants obtained by analysis of the sample is output, In the third area included in the user interface, a second browser for searching sequence information obtained by analyzing a specimen may be displayed.

In addition, the step of outputting responsive response information to at least one area included in the user interface includes receiving a user input for selecting a gene in which a specific mutation has occurred from the list of genes output to the first area, In response to a user input for selecting a gene, controlling a first browser to output a region of a gene in which a specific mutation has occurred, and in response to a user input for selecting a gene in which a specific mutation has occurred, a gene in which a specific mutation has occurred among sequence information It may include controlling the second browser to output the area.

In addition, the step of controlling the second browser includes outputting a graphic object indicating the location of a specific mutation within the area output to the second browser, and the method of providing genetic information analysis results includes controlling the second browser. After the step, in response to receiving a user input for selecting a graphic object, the method may further include outputting detailed information about a specific mutation among the genetic information analysis results for the sample through a second browser.

In addition, the step of controlling the second browser includes obtaining a list of transcription models associated with a gene in which a specific mutation has occurred, based on the priority of each of the plurality of transcription models included in the transcription model list, to output It may include determining a target transcription model and controlling the second browser to output amino acid sequence information including a result transcribed and translated through the determined target transcription model.

In addition, the step of controlling the second browser includes, when it is determined that the first amino acid associated with the gene in which a specific mutation occurred is different from the second amino acid translated from the reference base sequence, the amino acid indicating the difference between the first amino acid and the second amino acid. and controlling a second browser to output change information, and the amino acid change information may be output in association with the position of a specific mutation within the sequence information.

In addition, the step of outputting responsive response information to at least one area included in the user interface includes controlling the second browser to output a list of transcription models, and receiving a user input for selecting a specific transcription model from the list of transcription models. and controlling the second browser so that amino acid sequence information including the results transcribed and translated through a specific transcription model is output.

Additionally, a specific disease is identified based on the disease code included in the patient information, and the gene list may include at least one gene in which a mutation associated with the specific disease occurs among mutations found in the sample.

In addition, the specific disease is a cancer-related disease, and the gene list includes a first driver list including at least one gene in which a mutation related to the cause of the disease has occurred among the mutations found in the sample, and a list of genes among the mutations found in the sample. A second driver list including at least one gene in which a mutation related to disease suppression has occurred may be included.

In addition, the label of at least one gene included in the first driver list is visualized in the first area using a first graphic element, and the label of at least one gene included in the second driver list is visualized in the first area using a second graphic element. It can be visualized in the first area.

In addition, the step of outputting a graphic object associated with the location of a specific mutation in the area output to the second browser, and outputting responsive response information to at least one area included in the user interface, includes receiving a user input for selecting a graphic object. In response to receiving the sequence information, the method may include controlling the second browser to enlarge and display a region associated with a specific mutation among the sequence information.

Additionally, in the expanded sequence information area, letters associated with at least one of the base where the mutation occurred or the amino acid identifier may be displayed.

In addition, the method of providing genetic information analysis results includes receiving a user's comment through a comment input box included in the fourth area of the user interface and providing the received user's comment to at least one other user participating in a project related to the sample. Additional steps may be included.

In addition, first information associated with a plot about the tumor mutation burden for the sample is output through the fifth area of the user interface, and the first information is a single nucleotide variation for the sample, Tumor mutation burden statistics may be included for at least one of indels for the sample or structural variants (SVs) for the sample.

In addition, the step of outputting responsive response information to at least one area included in the user interface includes obtaining second information associated with a plot of the burden of tumor mutations for other specimens, and combining the first information and the second information. It may include the step of relating and outputting.

In addition, the step of outputting responsive response information to at least one area included in the user interface includes receiving a user input requesting comparison of a specific mutation among mutations found in a sample, and It may further include obtaining detailed information about the mutation and outputting the detailed information about the specific mutation found in the sample by correlating it with the detailed information about the specific mutation found in other samples.

In addition, an input box where a gene name is entered is displayed in the first area, and the method of providing genetic information analysis results further includes receiving the gene name input through the input box and adding the gene of the received name to the gene list. It can be included.

In order to execute the above-described method of providing genetic information analysis results on a computer, a computer program stored in a computer-readable recording medium may be provided.

A computing device according to an embodiment of the present disclosure includes a memory, and at least one processor connected to the memory and configured to execute at least one computer-readable program included in the memory, wherein the at least one program is Output a user interface for providing genetic information analysis results, respond to user input received through the user interface, and include interactive response information in the user interface containing details of the genetic information analysis results. A list of genes associated with a specific disease is displayed in a first area included in the user interface, and a list of genes associated with a specific disease is displayed in at least one area included in the user interface. A first browser for visualizing and exploring information about the variant is output, and a third area included in the user interface is for exploring sequence information obtained by analysis of the sample. A second browser may be output.

According to some embodiments of the present disclosure, various information related to genetic information analysis results can be efficiently provided through a plurality of areas included in the user interface.

According to some embodiments of the present disclosure, a user interface that can interactively view and explore a large amount of genetic information analysis results may be provided.

According to some embodiments of the present disclosure, the user interface includes a first browser capable of visualizing and browsing information about mutations found in the sample, and information about the base sequence, amino acid sequence, and/or mutation obtained by analysis of the sample. A second browser that can explore detailed information is included, and the user can easily explore the entire base sequence and genetic information together using the first and second browsers.

According to some embodiments of the present disclosure, a first browser and a second browser are linked to each other, so that when information output from one browser changes, information output from the other browser may change corresponding to the changed information. . Under this configuration, the user can identify linked information according to a specific input or search, thereby improving convenience in using the browser.

According to some embodiments of the present disclosure, when different types of mutations are output within the first browser, different graphic objects may be used to output different types of mutations to the first browser. Accordingly, users can intuitively identify the type of mutation that occurred in the base sequence and easily determine the occurrence pattern of various types of mutation.

According to some embodiments of the present disclosure, when mutations are densely located within the first browser, a specific mutation is emphasized by a pointer, an area where mutations are dense is automatically enlarged, or a plurality of mutations located in a dense region are rotated. Graphic processing such as highlighting may be performed. Accordingly, even if the mutations are dense, each mutation can be conveniently and accurately identified by the user.

According to some embodiments of the present disclosure, when a specific gene included in the driver list or gene list is selected, a region associated with the selected specific gene, such as a corresponding chromosome or gene, is automatically output to the first browser, and the region associated with the selected gene is automatically displayed. The sequence and/or other mutation-related information may be automatically output to the second browser. Accordingly, the user can easily change the information displayed on the first browser and the second browser by selecting a gene.

The effects of the present disclosure are not limited to the effects mentioned above, and other effects not mentioned are clear to a person skilled in the art (referred to as a ‘person skilled in the art’) in the technical field to which this disclosure pertains from the description of the claims. It will be understandable.

Embodiments of the present disclosure will be described with reference to the accompanying drawings described below, in which like reference numerals indicate like elements, but are not limited thereto.
1 is an exemplary diagram schematically illustrating an information processing system and its service provision environment according to embodiments of the present disclosure.
Figure 2 is a schematic diagram showing a configuration in which an information processing system according to an embodiment of the present disclosure is connected to enable communication with a plurality of user terminals.
Figure 3 is a block diagram showing the internal configuration of a user terminal and an information processing system according to an embodiment of the present disclosure.
Figure 4 is a diagram illustrating an initial screen displayed when login authentication is successful according to an embodiment of the present disclosure.
FIG. 5 is a diagram illustrating the layout of the fifth area of FIG. 4 according to an embodiment of the present disclosure.
Figure 6 is a diagram illustrating a user interface including a first browser and a second browser according to an embodiment of the present disclosure.
FIG. 7 is a diagram illustrating the layout of the second area of FIG. 6 according to an embodiment of the present disclosure.
FIG. 8 is an enlarged view of the third sub-area of FIG. 7.
FIG. 9 is an enlarged view of the fourth sub-area where the first browser of FIG. 7 is output.
FIG. 10 is a diagram illustrating another example of a first information output area including structural variations visualized through different graphic objects.
FIG. 11 is a diagram illustrating an example of graphic object processing when graphic objects associated with structural variation are dense.
FIG. 12 is a diagram illustrating another example of graphic object processing when graphic objects associated with structural variation are dense.
FIG. 13 is a diagram illustrating another example of graphic object processing when graphic objects associated with structural variation are dense.
Figure 14 is a diagram illustrating an enlarged area in the first browser.
Figure 15 is a diagram illustrating a screen of a first browser on which two chromosomes are displayed according to an embodiment of the present disclosure.
FIG. 16 is a diagram illustrating in more detail the fifth sub-area where the second browser of FIG. 7 is displayed.
Figure 17 is a diagram illustrating a screen on which detailed information about a mutation is output according to an embodiment of the present disclosure.
Figure 18 is a diagram illustrating an information output area set to enlarge and display a specific region of the base sequence and amino acid sequence.
Figure 19 is a diagram illustrating a second browser where a list of transcription models is output.
Figure 20 is a diagram illustrating a screen of a first browser on which information associated with a specific chromosome is displayed, according to an embodiment of the present disclosure.
Figure 21 is a diagram illustrating a screen of a second browser that operates in conjunction with a gene associated with a chromosome selected in the first browser.
Figure 22 is a diagram illustrating a screen of a first browser and a screen of a second browser that are operated based on mutation information selected from the driver list.
Figure 23 is a diagram showing another example of a screen of a first browser and a screen of a second browser that operates based on mutation information selected from the driver list.
FIG. 24 is an enlarged view of the sixth sub-area of FIG. 7.
FIG. 25 is a diagram illustrating a screen of a first browser and a screen of a second browser operating based on a gene selected from a gene list according to an embodiment of the present disclosure.
FIG. 26 is an enlarged view of the seventh sub-area of FIG. 7.
FIG. 27 is an enlarged view of the eighth sub-area of FIG. 7.
Figure 28 is a flowchart for explaining a method of providing genetic information analysis results according to an embodiment of the present disclosure.

Hereinafter, specific details for implementing the present disclosure will be described in detail with reference to the attached drawings. However, in the following description, detailed descriptions of well-known functions or configurations will be omitted if there is a risk of unnecessarily obscuring the gist of the present disclosure.

In the accompanying drawings, identical or corresponding components are given the same reference numerals. Additionally, in the description of the following embodiments, overlapping descriptions of identical or corresponding components may be omitted. However, even if descriptions of components are omitted, it is not intended that such components are not included in any embodiment.

Advantages and features of the disclosed embodiments and methods for achieving them will become clear by referring to the embodiments described below in conjunction with the accompanying drawings. However, the present disclosure is not limited to the embodiments disclosed below and may be implemented in various different forms. The present embodiments are merely provided to ensure that the present disclosure is complete and that the present disclosure does not convey the scope of the invention to those skilled in the art. It is provided only for complete information.

Terms used in this specification will be briefly described, and the disclosed embodiments will be described in detail. The terms used in this specification are general terms that are currently widely used as much as possible while considering the function in the present disclosure, but this may vary depending on the intention or precedent of a technician working in the related field, the emergence of new technology, etc. In addition, in certain cases, there are terms arbitrarily selected by the applicant, and in this case, the meaning will be described in detail in the description of the relevant invention. Accordingly, the terms used in this disclosure should be defined based on the meaning of the term and the overall content of the present disclosure, rather than simply the name of the term.

In this specification, singular expressions include plural expressions, unless the context clearly specifies the singular. Additionally, plural expressions include singular expressions, unless the context clearly specifies plural expressions. When it is said that a certain part includes a certain element throughout the specification, this does not mean excluding other elements, but may further include other elements, unless specifically stated to the contrary.

Additionally, the term 'module' or 'unit' used in the specification refers to a software or hardware component, and the 'module' or 'unit' performs certain roles. However, 'module' or 'unit' is not limited to software or hardware. A 'module' or 'unit' may be configured to reside on an addressable storage medium and may be configured to run on one or more processors. Thus, as an example, a 'module' or 'part' refers to components such as software components, object-oriented software components, class components and task components, processes, functions and properties. , procedures, subroutines, segments of program code, drivers, firmware, microcode, circuits, data, databases, data structures, tables, arrays, or variables. Components and 'modules' or 'parts' may be combined into smaller components and 'modules' or 'parts' or further components and 'modules' or 'parts'. Could be further separated.

According to an embodiment of the present disclosure, a 'module' or 'unit' may be implemented with a processor and memory. 'Processor' should be interpreted broadly to include general-purpose processors, central processing units (CPUs), microprocessors, digital signal processors (DSPs), controllers, microcontrollers, state machines, etc. In some contexts, 'processor' may refer to an application-specific integrated circuit (ASIC), programmable logic device (PLD), field programmable gate array (FPGA), etc. 'Processor' refers to a combination of processing devices, for example, a combination of a DSP and a microprocessor, a combination of a plurality of microprocessors, a combination of one or more microprocessors in combination with a DSP core, or any other such combination of configurations. You may. Additionally, 'memory' should be interpreted broadly to include any electronic component capable of storing electronic information. 'Memory' refers to random access memory (RAM), read-only memory (ROM), non-volatile random access memory (NVRAM), programmable read-only memory (PROM), erasable-programmable read-only memory (EPROM), May also refer to various types of processor-readable media, such as electrically erasable PROM (EEPROM), flash memory, magnetic or marking data storage, registers, etc. A memory is said to be in electronic communication with a processor if the processor can read information from and/or write information to the memory. The memory integrated into the processor is in electronic communication with the processor.

In the present disclosure, 'system' may include at least one of a server device and a cloud device, but is not limited thereto. For example, a system may consist of one or more server devices. As another example, the system may consist of one or more cloud devices (e.g., sequencing devices, etc.). As another example, the system may be operated with a server device and a cloud device configured together.

In addition, terms such as first, second, A, B, (a), (b) used in the following embodiments are only used to distinguish one component from another component, and the terms The essence, order, or order of the relevant components are not limited.

Additionally, in the following embodiments, when a component is described as being 'connected', 'coupled' or 'connected' to another component, the component may be directly connected or connected to the other component. , it should be understood that another component may be 'connected', 'combined', or 'connected' between each component.

In addition, as used in the following embodiments, 'comprises' and/or 'comprising' means that the mentioned component, step, operation, and/or element includes one or more other components, steps, or operations. and/or the presence or addition of elements.

Before describing various embodiments of the present disclosure, the terms used will be explained.

In an embodiment of the present disclosure, a 'graphic element' may be graphic-based data including at least one of a shape, color, or text. For example, a specific graphic element may be a specific shape, a specific color, and/or a specific text.

In embodiments of the present disclosure, a 'graphic object' is formed by including at least one graphic element and may be graphic-based information that a user can visually identify. For example, a graphic object may be implemented as a specific shape with a specific color. For example, the first graphic object may be a figure of a first type having a first color and a first size, and the second graphic object may be a figure of a second type having a second color and a second size.

In embodiments of the present disclosure, 'genetic information analysis results' may refer to the results of analyzing the whole genome or a part of the whole genome (eg, a specific chromosome, a specific gene, a target panel, etc.). For convenience of explanation, in the embodiments of the present disclosure, analysis information for the entire genome, analysis information for a specific chromosome, analysis information for a specific gene, and analysis information for the target panel are not distinguished, but are referred to as 'genome analysis information'. Please note that it is mentioned.

In embodiments of the present disclosure, 'first browser' may refer to an application program for supporting the search for mutations among genome analysis information. In some embodiments, the first browser may provide a view of mutations discovered across the entire genome.

In embodiments of the present disclosure, 'second browser' may refer to an application program for supporting search of sequence information obtained as a result of genome analysis at the level of a gene unit. Here, the sequence information may include an RNA (Ribonucleic acid) sequence in which a portion of a DNA sequence is transcribed by a transcription model and/or an amino acid sequence translated corresponding to such sequences.

The first browser and/or the second browser may be implemented using various programming tools such as JavaScript, Hypertext Markup Language (HTLM), and Application Programming Interface (API).

In the embodiments of the present disclosure, a 'base' is a unit constituting a base sequence and may be a component of nucleotides. For example, the base may be expressed as one of 'A' for adenine, 'C' for cytosine, 'G' for guanine, and 'T' for thymine. You can.

In embodiments of the present disclosure, the 'base sequence' may be composed of a plurality of bases arranged. A base sequence may contain multiple known chromosomes.

In embodiments of the present disclosure, a 'variation' may be identified as a portion of the base sequence of a sample that differs from the reference base sequence. Here, variation may include variants/variants, mutations, etc. Additionally, mutation may refer to a phenomenon in which a base sequence is added, changed, and/or deleted due to some reason (e.g., DNA damage, replication error, etc.).

In embodiments of the present disclosure, a 'DNA library' is genetic material that is the subject of sequencing processed into a form suitable for analysis by a sequencing device. A DNA library may contain numerous DNA fragments obtained from cells (i.e., specimens) of one or more test subjects.

In embodiments of the present disclosure, the 'marking code' may be a code related to a base included in a DNA fragment. In one embodiment, the marking code may be image data. When notating a marking code, the properties of the marking code can be used. According to some embodiments, distinct fluorescent materials may be used as attributes of the marking code. For example, the first marking code may be marked as a first fluorescent material representing adenine, and the second marking code may be marked as a second fluorescent material representing cytosine. As another example, the third marking code may be expressed as a third fluorescent material representing guanine, and the fourth marking code may be represented as a fourth fluorescent material representing thymine.

In embodiments of the present disclosure, 'marking data' may be data including one or more marking codes. For example, marking data may be an image file.

Hereinafter, various embodiments of the present disclosure will be described in detail with reference to the attached drawings.

1 is an exemplary diagram schematically illustrating an information processing system 110 and its service provision environment according to embodiments of the present disclosure. First, a DNA library 10 containing a DNA sample of a test subject may be created. For example, cells (i.e., specimens) from a subject being analyzed (e.g., a patient) are collected, and the cells are stored in a test tube with a predetermined solution and undergo pretreatment such as heating and centrifugation. A DNA library 10 containing countless DNA fragments obtained from cells can be created.

The DNA library 10 may include only a DNA sample obtained from one test subject, but may typically include DNA samples obtained from a plurality of test subjects. For example, a DNA sample generated from cells of a first test subject and a DNA sample generated from cells of a second test subject may be included together in the DNA library 10. That is, sequencing work for two or more test subjects can be performed simultaneously by the sequencing device 120.

The DNA library 10 may be mounted on a flow cell, and the flow cell may be input into the sequencing device 120. In some embodiments, any method that can introduce DNA library 10 into sequencing device 120 may be used.

The sequencing device 120 may identify the base type of each DNA fragment included in the DNA library 10 and generate marking data including a marking code corresponding to the identified base type. According to one embodiment, the sequencing device 120 identifies one base contained in each DNA fragment at every cycle, generates a marking code corresponding to the identified base, and adds the generated marking code to the marking data. Marking data can be updated by recording. The sequencing device 120 may generate one image file representing marking codes generated for all DNA fragments every cycle. Marking data may be a set of image files generated every cycle and may be stored in a storage device that the information processing system 110 can access. When a certain cycle (eg, 300 cycles) elapses, marking data 20 including marking codes generated in all cycles may be generated. According to one embodiment, a plurality of marking data 20 corresponding to the number of DNA fragments may be generated by the sequencing device 120.

The information processing system 110 may be a system that analyzes base sequences and outputs a genetic information analysis result report 30 including the analysis results. For example, once the generation of marking data 20 is completed in the sequencing device 120, the information processing system 110 may generate a base sequence based on the marking data 20. According to one embodiment, a plurality of marking data 20 corresponding to the number of DNA fragments are generated by the sequencing device 120, and the information processing system 110 includes a number of reads corresponding to the number of DNA fragments. Base sequences can be generated. For example, when the DNA library 10 includes n DNA fragments (where n is a natural number), the sequencing device 120 may generate n pieces of marking data 20 in a specific cycle. Subsequently, the information processing system 110 may generate a base sequence for a specimen containing n reads based on the n marking data 20.

So far, an embodiment has been described in which the sequencing device 120 outputs marking data 20 and the information processing system 110 generates a base sequence from the marking data 20, but in other embodiments, the sequencing device ( 120) may output a base sequence (eg, FASTQ file) instead of marking data 20.

In addition, the information processing system 110 compares the base sequence for the sample and the reference base sequence, aligns the base sequence for the sample, and compares the difference between the aligned base sequence and the reference sequence, Multiple mutations found in a sample can be identified. The information processing system 110 may generate a genetic information analysis result report 30 including genetic information analysis results based on a plurality of mutations discovered from the sample. For example, the genetic information analysis result report 30 may include the genetic information analysis result and any information associated therewith, such as the location of mutations found in the sample, the type of each mutation, It may include, but is not limited to, statistical information about analysis results, information related to tumor mutational burden (TMB), and information related to mutation signatures. In addition, the genetic information analysis result report 30 may further include information on the patient from whom the sample was collected, a list of drivers related to a specific disease, and detailed information on the mutated gene.

Here, the genetic information analysis result report 30 may be provided to a user (eg, medical staff) using a user interface, as will be described later. Here, the user interface is a means for conveniently providing base sequence analysis results, and can provide interactive response information including detailed information on genetic information analysis results to the user based on user input. For example, when a user selects a specific mutation, chromosome and genetic information related to the mutation may be output through the user interface.

A user interface may be output on a display means included in or connected to the information processing system 110, and information related to genome analysis may be output through the user interface. As another example, the information processing system 110 may transmit information related to genome analysis to a user terminal through a network, and the user terminal may output information related to genome analysis received through a user interface.

Figure 2 is a schematic diagram showing a configuration in which the information processing system 230 according to an embodiment of the present disclosure is connected to communicate with a plurality of user terminals 210_1, 210_2, and 210_3. As shown, a plurality of user terminals 210_1, 210_2, and 210_3 may be connected to an information processing system 230 that can provide genetic information analysis results for a sample through the network 220. For example, the information processing system 110 of FIG. 1 may be the same system as the information processing system 230 of FIG. 2 .

In one embodiment, information processing system 230 may include one or more server devices and/or databases capable of storing, providing, and executing executable programs (e.g., downloadable applications) and data, such as genetic information analysis services, or It may include one or more distributed computing devices and/or distributed databases based on cloud computing services. In one embodiment, the genetic information analysis service provided by the information processing system 230 may be provided to the user through a genetic information analysis service-related application installed on each of a plurality of user terminals 210_1, 210_2, and 210_3. For example, the information processing system 230 transmits part or all of the genetic information analysis result report to the user terminals 210_1, 210_2, and 210_3, and the user terminals 210_1, 210_2, and 210_3 transmit the genetic information analysis results through the user interface. You can print the data included in the report.

A plurality of user terminals 210_1, 210_2, and 210_3 may be computing devices capable of communicating with the information processing system 230 through the network 220. The network 220 may be configured to enable communication between a plurality of user terminals 210_1, 210_2, and 210_3 and the information processing system 230. Depending on the installation environment, the network 220 may be, for example, a wired network such as Ethernet, a wired home network (Power Line Communication), a telephone line communication device, and RS-serial communication, a mobile communication network, a wireless LAN (WLAN), It may consist of wireless networks such as Wi-Fi, Bluetooth, and ZigBee, or a combination thereof. The communication method is not limited, and includes communication methods that utilize communication networks that the network 220 may include (e.g., mobile communication networks, wired Internet, wireless Internet, broadcasting networks, satellite networks, etc.) as well as user terminals (210_1, 210_2, 210_3) ) may also include short-range wireless communication between

A plurality of user terminals 210_1, 210_2, and 210_3 may receive some or all of the data included in the genetic information analysis result report from the information processing system 230 using the genetic information analysis service and related applications. As another example, the user terminals 210_1, 210_2, and 210_3 may receive some or all of the data included in the genetic information analysis result report from the information processing system 230 using a web browser. The user terminals 210_1, 210_2, and 210_3 may output some information (eg, detailed information on the genetic information analysis results) included in the genetic information analysis result report using a user interface described later. When the user terminals 210_1, 210_2, and 210_3 receive a user input for selecting a specific menu or a specific graphic object in the user interface, they may output interactive response information corresponding to the user input. Here, the responsive response information may include detailed information about the genetic information analysis results.

According to one embodiment, when a user input is received through the user interface, the user terminals 210_1, 210_2, and 210_3 may transmit a data request associated with the user input to the information processing system 230. Thereafter, the user terminals 210_1, 210_2, and 210_3 may receive data associated with the user input (eg, detailed information on genetic information analysis results) from the information processing system 230 and output it through a user interface.

In Figure 2, the mobile phone terminal (210_1), tablet terminal (210_2), and PC terminal (210_3) are shown as examples of user terminals, but they are not limited thereto, and the user terminals (210_1, 210_2, 210_3) use wired and/or wireless communication. This may be any computing device capable of installing and executing an application or a web browser. For example, user terminals may include smartphones, mobile phones, navigation systems, computers, laptops, digital broadcasting terminals, PDAs (Personal Digital Assistants), PMPs (Portable Multimedia Players), tablet PCs, etc. In addition, in Figure 2, three user terminals (210_1, 210_2, 210_3) are shown as communicating with the information processing system 230 through the network 220, but this is not limited to this, and a different number of user terminals are connected to the network ( It may be configured to communicate with the information processing system 230 through 220). In Figure 2, the user terminal and the information processing system are shown to communicate as separate devices, but this is only an example, and the genetic information analysis-related configuration and/or functions provided by the user terminal and the genetic information processing system that provide Information analysis-related components and/or functions may be implemented in one computing device.

Figure 3 is a block diagram showing the internal configuration of the user terminal 210 and the information processing system 230 according to an embodiment of the present disclosure. The user terminal 210 may refer to any computing device capable of executing an application related to a genetic information analysis service, a web browser providing a genetic information analysis service, etc., and capable of wired/wireless communication. For example, in FIG. 2 may include a mobile phone terminal (210_1), a tablet terminal (210_2), a PC terminal (210_3), etc.

As shown, the user terminal 210 may include a memory 312, a processor 314, a communication module 316, and an input/output interface 318. Similarly, information processing system 230 may include memory 332, processor 334, communication module 336, and input/output interface 338. As shown in FIG. 3, the user terminal 210 and the information processing system 230 are configured to communicate information and/or data through the network 220 using respective communication modules 316 and 336. It can be. Additionally, the input/output device 320 may be configured to input information and/or data to the user terminal 210 through the input/output interface 318 or to output information and/or data generated from the user terminal 210.

Memories 312 and 332 may include any non-transitory computer-readable recording medium. According to one embodiment, the memories 312 and 332 are non-permanent mass storage devices such as read only memory (ROM), disk drive, solid state drive (SSD), flash memory, etc. It can be included. As another example, non-perishable mass storage devices such as ROM, SSD, flash memory, disk drive, etc. may be included in the user terminal 210 or the information processing system 230 as a separate persistent storage device that is distinct from memory. In addition, the memories 312 and 332 include an operating system and at least one program code (for example, an application associated with a genetic information analysis service installed and running on the user terminal 210 or a web browser that provides a genetic information analysis service, etc. code, etc.) can be stored.

These software components may be loaded from a computer-readable recording medium separate from the memories 312 and 332. This separate computer-readable recording medium may include a recording medium directly connectable to the user terminal 210 and the information processing system 230, for example, a floppy drive, disk, tape, DVD/CD- It may include computer-readable recording media such as ROM drives and memory cards. As another example, software components may be loaded into the memories 312 and 332 through a communication module rather than a computer-readable recording medium. For example, at least one program is loaded into memory 312, 332 based on a computer program installed by files provided over the network 220 by developers or a file distribution system that distributes installation files for applications. It can be.

The processors 314 and 334 may be configured to process instructions of a computer program by performing basic arithmetic, logic, and input/output operations. Instructions may be provided to the processors 314 and 334 by memories 312 and 332 or communication modules 316 and 336. For example, the processors 314 and 334 may be configured to execute instructions received according to program codes stored in a recording device such as the memory 312 and 332.

The communication modules 316 and 336 may provide a configuration or function for the user terminal 210 and the information processing system 230 to communicate with each other through the network 220, and may provide a configuration or function for the user terminal 210 and/or information processing. The system 230 may provide a configuration or function for communicating with other user terminals or other systems (for example, a separate cloud system, etc.). For example, a request (e.g., a request for detailed information about genetic information analysis results, etc.) or data generated by the processor 314 of the user terminal 210 according to a program code stored in a recording device such as the memory 312. It may be transmitted to the information processing system 230 through the network 220 under the control of the communication module 316. Conversely, at least one of the control signals, commands, or data (e.g., detailed information related to genetic information analysis results, etc.) provided under the control of the processor 334 of the information processing system 230 is connected to the communication module 336 and the network. It may be received by the user terminal 210 through the communication module 316 of the user terminal 210 via 220.

The input/output interface 318 may be a means for interfacing with the input/output device 320. As an example, input devices may include devices such as cameras, keyboards, microphones, mice, etc., including audio sensors and/or image sensors, and output devices may include devices such as displays, speakers, haptic feedback devices, etc. You can. As another example, the input/output interface 318 may be a means for interfacing with a device that has components or functions for performing input and output, such as a touch screen, integrated into one. For example, the processor 314 of the user terminal 210 uses information and/or data provided by the information processing system 230 or another user terminal when processing instructions of a computer program loaded in the memory 312. A service screen, etc. constructed by doing so may be displayed on the display through the input/output interface 318. In FIG. 3 , the input/output device 320 is shown not to be included in the user terminal 210, but the present invention is not limited to this and may be configured as a single device with the user terminal 210. Additionally, the input/output interface 338 of the information processing system 230 may be connected to the information processing system 230 or means for interfacing with a device (not shown) for input or output that the information processing system 230 may include. It can be. In FIG. 3, the input/output interfaces 318 and 338 are shown as elements configured separately from the processors 314 and 334, but the present invention is not limited thereto, and the input/output interfaces 318 and 338 may be configured to be included in the processors 314 and 334. there is.

The user terminal 210 and information processing system 230 may include more components than those in FIG. 3 . However, there is no need to clearly show most prior art components. According to one embodiment, the user terminal 210 may be implemented to include at least some of the input/output devices 320 described above. Additionally, the user terminal 210 may further include other components such as a transceiver, a global positioning system (GPS) module, a camera, various sensors, and a database. For example, if the user terminal 210 is a smartphone, it may include components generally included in a smartphone, such as an acceleration sensor, a gyro sensor, an image sensor, a proximity sensor, a touch sensor, Various components such as an illuminance sensor, a camera module, various physical buttons, buttons using a touch panel, input/output ports, and a vibrator for vibration may be implemented to be further included in the user terminal 210.

While a program for an application, web browser, etc. that provides a genetic information analysis service is being operated, the processor 314 operates a touch screen, keyboard, camera including an audio sensor and/or an image sensor, a microphone, etc. connected to the input/output interface 318. It is possible to receive input or selected text, images, videos, voices, and/or actions through an input device, and store the received text, images, videos, voices, and/or actions in the memory 312 or store them in the communication module. It can be provided to the information processing system 230 through 316 and network 220.

The processor 314 of the user terminal 210 manages, processes, and/or stores information and/or data received from the input/output device 320, other user terminals, the information processing system 230, and/or a plurality of external systems. It can be configured to do so. Information and/or data processed by processor 314 may be provided to information processing system 230 via communication module 316 and network 220. The processor 314 of the user terminal 210 may transmit information and/or data to the input/output device 320 through the input/output interface 318 and output the information. For example, the processor 314 outputs the received information and/or data, so that the received information and/or data is displayed on the screen of the user terminal 210, using a display device included in or connected to the user terminal 210. You can control it.

The processor 334 of the information processing system 230 may be configured to manage, process, and/or store information and/or data received from a plurality of user terminals 210 and/or a plurality of external systems. Information and/or data processed by the processor 334 may be provided to the user terminal 210 through the communication module 336 and the network 220.

Although not shown in the drawing, the information processing system 230 may include at least one database for storing a genetic information analysis result report including genome analysis information. According to one embodiment, the information processing system 230 may store a report on the results of genetic information analysis for each sample and may store identification information of at least one sample included in each project. Accordingly, a project may include a report on the results of genetic information analysis for at least one sample. Here, the genetic information analysis result report includes the location of each mutation, the type of each mutation, patient information from which the sample was collected, statistical information on the analysis result, comment information on the analysis result, a list of drivers related to a specific disease, and the mutation. It may include information about the gene that occurred, information related to the tumor mutational burden (TMB), and information related to the mutation signature. Detailed information included in the genetic information analysis result report may be output to at least one area included in the user interface.

Additionally, the database can store user information including the user's ID and password, name, date of birth, mobile phone number, email address, etc. Additionally, the database can store information (i.e., member information) of multiple users participating in each project. According to one embodiment, the database may store a list of key mutations associated with each disease. For example, a first list of key mutations associated with a first disease may be stored in a database, and a second list of key mutations associated with a second disease may be stored in a database. Here, the list of key mutations may include mutations known in the art to be important in the associated disease. Additionally, the database may store a list of genes associated with each of one or more diseases. Here, the gene list may include labels for genes in which mutations have occurred that are known to be important in the disease.

FIG. 4 is a diagram illustrating an initial screen 400 displayed when login authentication is successful, according to an embodiment of the present disclosure. As illustrated in FIG. 4 , when the user terminal accesses the information processing system and successfully logs in, the initial screen 400 as shown in FIG. 4 may be output to the user terminal.

The initial screen 400 may be configured with a layout divided into a plurality of areas. According to one embodiment, the initial screen 400 includes a first area 410 including a menu button, a second area 420 including a project selection menu, a third area 430 indicating the location of the current menu, It may be composed of a fourth area 440 that displays logged-in user information and a fifth area 450 that displays statistical information on the analysis results of each sample included in the project and brief information for each sample.

When a menu included in the first area 410 is selected, a first sub-menu for checking statistical information and a second sub-menu for checking information on analysis results may be output. Additionally, when a menu included in the first area 410 is selected, various submenus in addition to the first submenu and the second submenu may be output together. By selecting a submenu, the user can obtain related information.

The second area 420 may include a project selection menu used to output a list of projects in which a user who has successfully logged in is participating. When the project selection menu is selected, a list of projects assigned to the user may be displayed on the user terminal.

Information about the menu currently in use may be displayed in the third area 430. Figure 4 illustrates that a menu related to statistics on next-generation sequencing (NGS Statistics) is being used.

User information including the user's login ID may be output in the fourth area 440.

In the fifth area 450, brief information and statistical information about each sample included in the project can be output. The statistical information output to the fifth area 450 will be described in detail with reference to FIG. 5 .

The user can select another project using the project selection menu included in the second area 420. When a second project that is different from the first project displayed on the initial screen 400 is selected through the project selection menu, statistical information and brief information about the analysis results for each sample included in the second project are displayed in the fifth area (450). ) can be output.

FIG. 5 is a diagram illustrating the layout of the fifth area 450 of FIG. 4 according to an embodiment of the present disclosure. Referring to FIG. 5 , the fifth area 450 included in the initial screen 400 may be configured with a layout including a plurality of sub-areas 510 to 560.

Brief information about the analysis results for each sample may be displayed in the first sub-area 510. For example, brief information about the analysis results may include a sample ID for the specimen, a quality level for the analysis results, tumor identification information, and the date the analysis was completed. For example, if the quality of the analysis result is good, it may be indicated as 'Pass', and if the quality of the analysis result is poor, 'Fail' or 'Warning' may be indicated depending on the quality level.

Statistical information on Tumor Mutational Burden may be output in the second sub-area 520. As illustrated in Figure 5, statistical information on the burden of tumor mutations can be output for each single nucleotide variation, indel (Insertion & Deletion), and structural variant (SV). Here, statistical information can be calculated based on all samples included in the project. As illustrated in FIG. 5 , the regions corresponding to the tumor mutation burden are divided into a certain number, and the number of discoveries of the tumor mutation burden for each region may be output in the second sub-region 520 in the form of a graph.

Statistical information about sequencing quality for a project may be output in the third sub-area 530. For example, statistics on the sequencing quality of each sample included in the project may be calculated, and the calculated statistics may be output in graphic form to the third sub-area 530.

In the fourth sub-region 540, statistical information on mutations in driver genes related to a specific disease (eg, cancer) may be output. Statistical information output from the fourth sub-area 540 may be generated based on analysis results of mutations found in each sample included in the project. At the top of the fourth sub-region 540, the number of discoveries of each mutation related to the tumor-causing gene (oncogene) is displayed in the form of a bar graph, and at the bottom of the fourth sub-region 540, the tumor suppressor gene and The number of discoveries for each associated mutation is illustrated as output as a bar graph.

In the fifth sub-area 550, the ratio of tumor cells to normal cells may be displayed in graphic form. Here, the ratio of tumor cells to normal cells is calculated for each predetermined section, and each ratio calculated in this way can be output in the form of a graph in the corresponding section.

In the sixth sub-area 560, the degree of ploidy may be output in the form of a graph. According to one embodiment, the degree of ploidy of each sample included in the project is calculated for each predetermined section, and each degree of ploidy calculated in this way can be output in the form of a graph in the corresponding section.

Meanwhile, when one of the samples included in the first sub-area 510 of FIG. 5 is selected, a user interface including a first browser and a second browser that can check the analysis results for the selected sample in detail is displayed. It can be.

FIG. 6 is a diagram illustrating a user interface 600 including a first browser and a second browser, according to an embodiment of the present disclosure. As illustrated in FIG. 6, the user interface 600 may be configured with a layout in which a plurality of areas 610, 620, and 630 are partitioned.

A menu for selecting a project and sample may be displayed in the first area 610 included in the user interface 600. When the corresponding menu is selected, the project list and sample list can be output through the user interface 600.

Detailed information about the sample analysis results may be displayed in the second area 620 included in the user interface 600. The second area 620 may include a plurality of browsers and a plurality of sub-areas. A description of the layout of the second area 620 will be described later with reference to FIG. 7 .

The third area 630 included in the user interface 600 may include a comment input box for exchanging comments with other users participating in the project. In the information processing system, at least one of the email addresses, contact information, or terminal IP addresses of users participating in each project may be stored. When a specific user enters a comment in the comment input box of the third area 630, the comment may be provided to other users participating in the project. For example, when a user enters a comment in the comment input box, the information processing system obtains the comment entered by the user, identifies the project associated with the sample being output through the user interface, and then selects at least one other project participating in the identified project. User comments can be provided to the user. At this time, the information processing system may transmit the comment to another user's email or a user terminal owned by another user.

FIG. 7 is a diagram illustrating the layout of the second area 620 of FIG. 6 according to an embodiment of the present disclosure. As illustrated in FIG. 7 , the second area 620 where the analysis results for the sample are output may be configured in a layout including a plurality of sub-areas 710 to 780.

Patient information and statistical information about sequencing results may be output in the first sub-area 710. As illustrated in FIG. 7, patient information including disease-related codes and disease identification information (e.g., cancer identification information) and statistical information about sequencing results for specimens may be output to the first sub-area 710. .

Sample analysis information may be output in the second sub-area 720. The search interpretation information may be comments recorded by a professional analyst. That is, a professional analyst can interpret the sequencing results for the specimen, enter comments on the sequencing results in advance and store them in the information processing system, and when the comments on the sequencing results are stored in this way, they are stored in the second sub-area 720. Comments written by professional analysts can be output.

In the third sub-region 730, a driver list including a list of genes related to a specific disease (eg, cancer) and associated with mutations found in the sample may be displayed. Here, the driver list is associated with a specific disease and may include a list of genes in which mutations occurred and information about mutations found in the sample. In Figure 7, the driver list is illustrated as a disease related to cancer. The driver list may include a list of oncogene drivers and a list of tumor suppressor drivers. Among the mutations found in the sample, the gene label in which the cancer-causing mutation occurred may be included in the list of cancer-causing drivers and output to the third sub-region 730. In addition, among the mutations found in the sample, a gene label that has a mutation that limits or eliminates the cancer-suppressing function may be included in the list of cancer-suppressing drivers and output to the third sub-region 730.

In the fourth sub-region 740, a first browser that can search for mutations found in the sample across the entire base sequence may be displayed. In some embodiments, the first browser may provide a view of mutations discovered across the entire genome. Using the first browser, the user can enlarge or zoom in on a specific region within the entire base sequence and select only a region corresponding to at least one chromosome from the genome. Additionally, the user can perform various search tasks for mutations found in the sample using the first browser. When a user input is received through the first browser or another area of the user interface 600, responsive response information based on genome analysis information may be output to the fourth sub-area 740 in response to the user input. Responsive response information may include various detailed information about the results of genetic information analysis of the sample. The various functions provided by the first browser will be described in detail later with reference to FIGS. 9 to 15.

In the fifth sub-area 750, a second browser used to search detailed information about sequence information and other mutations obtained by analyzing a specimen may be displayed. In some embodiments, the second browser may enable search of sequence information obtained as a result of genome analysis at the level of a gene unit. The user can use the second browser to enlarge the amino acid information area and check the differences between the reference amino acid and the mutated amino acid. Additionally, the user can perform various search tasks related to genetic information using the second browser.

When a user input is received through the second browser or another area of the user interface 600, responsive response information based on genome analysis information may be output to the fifth sub-area 750 in response to the user input. Responsive response information may include genetic information about mutations. Here, the genetic information may include exons associated with the mutated gene, amino acid sequences transcribed and translated from the base sequence, untranslated regions that are not translated from the base sequence, domain information, etc. You can. The various functions provided by the second browser will be described in detail later with reference to FIGS. 16 to 19.

A list of genes associated with a specific disease may be displayed in the sixth sub-region 760. Here, the gene list may include at least one gene label in which a key mutation associated with a particular disease occurs. According to one embodiment, a list of genes associated with a specific disease may be stored in advance in an information processing system, and the information processing system may include the gene list in genome analysis information for a specimen. According to one embodiment, based on a disease code included in patient information, a specific disease may be identified, and the information processing system extracts a list of genes associated with the identified specific disease from the database, and converts the extracted gene list into genome analysis information. can be included in In this disclosure, the specific disease is illustrated as being cancer.

When comparing the driver list included in the third sub-region 730 and the gene list included in the sixth sub-region 760, the gene list output to the sixth sub-region 760 includes genes associated with mutations found in the sample. Labels and gene labels not found from the sample are included, and the driver list output to the third sub-region 730 may include only gene labels associated with mutations found from the sample. Here, the gene label may be a gene name.

Information related to the tumor mutational burden of the specimen may be output in the seventh sub-area 770. Mutation burden statistical information for each single nucleotide variation, indel, and structural variant (SV) for the sample is calculated and displayed in the seventh sub-region 770 in the form of a graph. You can. Information related to the tumor mutation burden output from the seventh sub-region 770 will be described in detail later with reference to FIG. 26.

Information related to the mutational signature for the specimen may be output in the eighth sub-area 780. Information associated with the mutation signature may include single base substitution (SBS) signature information and indel signature information. Mutation signature information output from the eighth sub-area 780 will be described in detail later with reference to FIG. 27.

FIG. 8 is an enlarged view of the third sub-area 730 of FIG. 7. In the third sub-region 730, a driver list including a list of genes associated with a specific disease (eg, cancer) and associated with mutations found in the sample may be displayed. Here, the gene list may include at least one gene label.

As illustrated in FIG. 8, when the disease to be analyzed is a disease related to cancer, the driver list includes an oncogene driver list 810 and a tumor suppressor driver list 820. can do. In Figure 8, the cancer-causing driver list 810 includes the 'MYCN' gene label and mutation information in which base 'C' is replaced with 'T' in the gene with the 'MYCN' gene label, and the cancer-suppressing driver list 820 includes the 'CNTNAP2' gene label and the 'MEN1' gene label, and additionally includes information on mutations that occurred in genes with the 'CNTNAP2' gene label and the 'MEN1' gene label, respectively. Additionally, the gene label and mutation information included in the cancer-causing driver list 810 may be visualized using a first graphic element (eg, a first color) and output to the third sub-area 730. Gene labels and mutation information included in the cancer suppression driver list 820 may be visualized using a second graphic element (eg, a second color) and output to the third sub-area 730. In Figure 8, the gene label and mutation information are illustrated as being separated by a separator (:).

At least one link icon 830 to 870 capable of accessing an external database may be displayed in the third sub-area 730 adjacent to the label of each gene.

Each link icon (830 to 870) is a means of accessing an external database that provides at least one of a detailed description of each mutation, comment information, treatment method, effect due to the treatment method, etc., and the link icon (830 to 870) 870) may include link addresses of different external databases.

The first link icon 830 provides a link to access a first external database (e.g., “OncoKB” database) that provides at least one of a detailed description of the mutation, comment information, treatment method, or effect due to the treatment method. It can be included. When the first link icon 830 is clicked or touched, the user interface accesses the first external database to obtain at least one of a detailed description of the mutation, comment information, a treatment method, or an effect due to the treatment method, and the obtained A web page containing information can be output. The first link icon 830 may be activated and output to the third sub-area 730 when information associated with the gene label output to the third sub-area 730 is included in the first external database.

Similarly, the second link icon 840 may provide access to a second external database (e.g., the “CIVIC” database) that provides at least one of a detailed description of the mutation, comment information, a treatment method, or an effect resulting from the treatment method. May contain links. When the second link icon 840 is clicked or touched, the user interface accesses the second external database to obtain at least one of a detailed description of the mutation, comment information, a treatment method, or an effect due to the treatment method, and obtains this. You can output a web page containing the information provided. The second link icon 840 may be activated and output to the third sub-area 730 when information associated with the gene label output to the third sub-area 730 is included in the second external database.

Additionally, the third link icon 850 provides access to a third external database (e.g., “Ensembl” database) that provides at least one of a detailed description of the mutation, comment information, treatment method, or effect due to the treatment method. May contain links. The third link icon 850 may be activated and output to the third sub-area 730 when information associated with the gene label output to the third sub-area 730 is included in the third external database. Likewise, the fourth link icon 860 provides access to a fourth external database (e.g., the “UCSC Genome Institute” database) that provides at least one of a detailed description of the mutation, comment information, a treatment method, or an effect resulting from the treatment method. It may include a link, and the fifth link icon 870 is a fifth external database (e.g., “ClinicalTrials. gov" database). The fourth link icon 860 can be activated and output to the third sub-area 730 when information associated with the gene label is included in the fourth external database, and the fifth link icon 870 is associated with the gene label. If information is included in the fifth external database, it may be activated and output to the third sub-area 730.

FIG. 9 is an enlarged view of the fourth sub-area 740 where the first browser of FIG. 7 is displayed. As illustrated in Figure 9, the first browser includes a menu area 910 where at least one chromosome can be selected, a chromosome display area 920 where chromosome identification information is displayed, structural variation, and copy number. The first information output area 930 where number) information is output, point mutation and allelic copy number information (for example, the copy number of the chromosome received from the father and the copy number of the chromosome received from the mother) a second information output area 940 where the number of copies), etc. are output, a gene label output area 950 where labels of genes in which mutations are found or not found are output, and the type of mutation to be displayed visually in the first browser is filtered. It may be configured with a layout that includes a filtering area 960 used to do so.

Information output to each of the menu area 910, the first information output area 930, the second information output area 940, and the gene label output area 950 can be controlled through the first browser.

When the Chromosome menu included in the menu area 910 is selected, a list of chromosomes included in the base sequence can be displayed. One or more chromosomes may be selected from the chromosome list, and only information related to the selected chromosome may be selected and output to the first information output area 930, the second information output area 940, and the gene label output area 950. 1 Browser can be controlled.

Identification information for each chromosome may be displayed in the chromosome display area 920. In Figure 9, it is illustrated that all chromosomes are printed.

A pattern in which the copy number of each region/position of the genome is plotted with black dots may be displayed in the first information output area 930 through the first browser. Additionally, point mutations and structural mutations may be visualized through the first browser and output to the first information output area 930. According to one embodiment, a graphic object associated with a structural mutation discovered from a specimen may be visualized and output to the first information output area 930. At this time, at least one of the shape or color of the graphic object is determined based on the type of target structural mutation to be visualized, and the size (e.g., width) of the graphic object is determined based on the area (position range) of the target structural mutation. may be determined and visualized in the first information output area 930.

The first information output area 930 of FIG. 9 illustrates that five structural mutations are visualized and output, and the colors and/or shapes are visualized differently depending on the type of structural mutation.

Information about the copy number for each allele may be output in the second information output area 940. In the second information output area 940 of FIG. 9, the copy number of one allele (e.g., the copy number of the allele received from the mother) is visualized using a first graphic element (e.g., a first color), and another The copy number of an allele (e.g., the copy number of a paternal allele) is illustrated as visualized using a second graphical element (e.g., a second color).

Additionally, point mutations found from base sequences may be visualized and output in the second information output area 940. Based on the type of mutation, a graphical element that visualizes the mutation may be determined. For example, the mutation 'C>A', where base 'C' is substituted for 'A', can be visualized using a third graphical element, and 'C>G', where base 'C' is substituted for 'G'. The mutation can be visualized using a fourth graphic element, and the 'C>T' mutation, where base 'C' is replaced with 'T', can be visualized using a fifth graphic element.

In the gene label output area 950, each gene associated with a major mutation associated with a specific disease can be output in association with its location. Additionally, among the genes associated with major mutations displayed in the gene label output area 950, genes associated with mutations found in the sample can be visualized using separate graphic elements. According to one embodiment, among genes associated with major mutations, genes found in a sample and included in a list of cancer-causing drivers may be visualized in the gene label output area 950 using a sixth graphic element. Additionally, among the genes associated with major mutations, genes discovered from the sample and included in the cancer suppressor driver list can be visualized in the gene label output area 950 using a seventh graphic element. Additionally, among genes associated with major mutations, genes associated with mutations not found in the sample can be visualized in the gene label output area 950 using the eighth graphic element. In Figure 9, the 'MYCN' gene included in the cancer-causing driver is visualized using a third color as the sixth graphic element, and the 'CNTNAP2' and 'MEN1' genes included in the cancer-suppressing driver list are visualized as the seventh graphic element. 4 Colors are used to visualize, and genes related to major mutations not found in the specimen, such as 'ARID1A' and 'RIT1', are visualized using the 5th color as the 8th graphic element.

The filtering area 960 includes first filter objects capable of filtering structural variations output to the first information output area 930 and a second filter capable of filtering the variations output to the second information output area 940. Can contain objects.

First filter objects included in the filtering area 960 may include objects related to structural variation. In Figure 9, the first filter objects are a 'DEL' object representing a structural mutation associated with deletion, a 'DUP' object representing a structural mutation associated with duplication, and a '5to5INV' object representing a structural mutation associated with inversion. ' object, a '3to3INV' object, and a 'TRA' object representing structural variation associated with translocation. The number in parentheses next to each object may be the number of corresponding structural mutations found in the sample.

Among the first filter objects, information on a type of structural variation associated with the filter object selected by the user (i.e., a graphic object associated with the structural variation) may be selected and visually displayed in the first information output area 930. In addition, information about a type of structural variation (i.e., a graphic object associated with a structural variation) associated with a filter object not selected by the user among the first filter objects may be removed or made invisible from the first information output area 930. You can. By selecting an object included in the first filter objects, the user can select information about the structural mutation to be confirmed and output it to the first information output area 930.

Second filter objects included in the filtering area 960 may include objects associated with mutations other than structural mutations. In Figure 9, the second filter objects include a 'Major Allele' object representing the copy number of the allele received from one of the mother and father, and a 'Minor Allele' object representing the copy number of the allele received from the other one of the mother and father. It can be included. Here, if the 'Major Allele' object represents the copy number of the allele received from the mother, the 'Minor Allele' object may represent the copy number of the allele received from the father. Conversely, if the 'Major Allele' object represents the copy number of the allele received from the father, the 'Minor Allele' object can represent the copy number of the allele received from the mother.

Additionally, the second filter objects may include a plurality of objects associated with point mutations. In Figure 9, objects associated with point mutations are 'C>A' object, 'C>G' object, 'C>T' object, 'T>A' object, 'T>C' object, and 'T>G'. It is illustrated as being an object. Additionally, the second filter objects may include an 'ins' object related to insertion and a 'del' object related to base deletion. The number in parentheses next to each object may be the number of corresponding mutations detected from the base sequence.

The copy number and/or mutation associated with an object selected from among the second filter objects is selected and displayed visually in the second information output area 940, and the copy number and/or mutation associated with an object not selected from among the second filter objects is selected. Mutations may be removed or made invisible in the second information output area 940. By selecting an object included in the second filter objects, the user can select the paternal/maternal copy number and/or mutation to be confirmed and output them to the second information output area 940.

FIG. 10 is a diagram illustrating another example of the first information output area 1000 including structural variations visualized through different graphic objects. As illustrated in FIG. 10 , a graphic object associated with the type of structural variation is determined by the first browser, and this graphic object may be visualized in the first information output area 1000.

A first type of structural variation 1010 associated with an inversion of n numbers (where n is a natural number) of bases may be visualized in the first information output area 1000 using a first graphic object. Additionally, a second type of structural variation 1020 associated with an inversion of m numbers of bases (where m is a natural number) may be visualized in the first information output area 1000 using a second graphic object. A third type of structural variation 1030 associated with base translocation may be visualized in the first information output area 1000 using a third graphic object. Additionally, a fourth type of structural variation 1040 associated with a base deletion may be visualized in the first information output area 1000 using a fourth graphic object.

As illustrated in FIG. 10 , when the types of structural variations 1010 to 1040 are different, different graphic objects may be used to visualize the structural variations 1010 to 1040. For example, graphic objects having different colors and/or shapes may be used for different types of structural variations 1010 to 1040.

Meanwhile, graphic objects related to structural variations may be concentrated and output to the first information output area. For example, when a plurality of structural mutations are found in a specific region of the base sequence, graphic objects related to the structural mutations may be densely distributed in the specific region. In this case, graphic objects related to each structural variation may be visualized overlapping, which may deteriorate user readability. To prepare for this situation, the density of graphic objects associated with the structural variation is calculated, and if the calculated density exceeds a predetermined threshold, various graphic processing may be performed to improve readability. For example, the density of graphic objects may be calculated based on the number of graphic objects located within a threshold distance. In this case, when graphic objects exceeding a threshold value related to structural variation are located within a critical distance, various graphic processing may be performed to improve readability. As another example, the density of graphic objects may be calculated based on the area where graphic objects are visualized within a predetermined unit area. In this case, when the calculated density of graphic objects is greater than or equal to a threshold, various graphic processing may be performed to improve readability. In addition to this, the closeness of graphic objects can be calculated in various ways.

FIG. 11 is a diagram illustrating an example of graphic object processing when graphic objects associated with structural variation are dense. As illustrated in the first screen 1110 of FIG. 11, when graphic objects related to structural variation are densely located within the critical distance, the area 1112 including the critical distance is the dense area 1112 where the graphic objects are densely located. ) can be determined to be. For example, a dense area 1112 whose horizontal width is a predetermined distance from the critical distance may be determined. According to one embodiment, it is determined whether graphic objects greater than the threshold are located within the critical distance, and when graphic objects greater than the threshold are located within the critical distance, the area including the threshold distance may be determined to be a dense area. there is. According to some embodiments, the density of graphic objects is calculated based on the area in which at least one graphic object is visualized within a predetermined unit area, and when the calculated density of graphic objects is greater than or equal to a threshold value, the density of graphic objects including the corresponding graphic object is calculated. The area may be determined to be a dense area.

When graphic objects greater than a threshold are located in the dense area 1112 or the density of the dense area 1112 is greater than the threshold, the pointer moves to the first graphic object 1122 among the plurality of graphic objects, as in the second screen 1120. It can be located in . In this case, the first browser may be controlled so that the first graphic object 1122 where the pointer is located is highlighted. Additionally or alternatively, the first browser may be controlled so that among graphic objects included in the dense area 1112, objects other than the first graphic object 1122 where the pointer is located are removed or blurred. In the second screen 1120 of FIG. 11, the line thickness of the graphic object 1122 where the pointer is located becomes thicker, and the remaining objects are blurred.

When the pointer moves from the first object 1122 to the second object 1132, the line thickness of the second graphic object 1132 where the pointer is located becomes thicker and emphasized, and objects other than the second graphic object 1122 are The first browser can be controlled to be removed or dimmed.

FIG. 12 is a diagram illustrating another example of graphic object processing when graphic objects associated with structural variation are dense. As illustrated in the first screen 1210 of FIG. 12, when graphic objects exceeding a threshold value associated with structural variation are densely located within a critical distance, the area 1212 including the critical distance is a dense area where graphic objects are densely located. It can be determined as (1212). According to some embodiments, the density of graphic objects is calculated based on the area in which at least one graphic object is visualized within a predetermined unit area, and when the calculated density of graphic objects is greater than or equal to a threshold value, the density of graphic objects including the corresponding graphic object is calculated. The area may be determined to be a dense area.

In response to the dense area 1212 being determined, the first browser may be controlled so that a plurality of graphic objects located in the dense area 1212 rotate at regular time intervals and are highlighted. For example, the first browser may be controlled so that the first, second, and third graphic objects included in the dense area 1212 are rotated, highlighted, and visualized in that order. At this time, the line of the emphasized graphic object may become thick, and graphic objects other than the emphasized object may be blurred or removed.

As illustrated in FIG. 12, the order of the second screen 1220 in which the first graphic object is emphasized, the third screen 1230 in which the second graphic object is emphasized, and the fourth screen 1240 in which the third graphic object is emphasized. The first browser can be controlled to rotate to .

FIG. 13 is a diagram illustrating another example of graphic object processing when graphic objects associated with structural variation are dense. As illustrated in the first screen 1310 of FIG. 13, when graphic objects exceeding a threshold value associated with structural variation are densely located within a critical distance, the area 1312 including the critical distance is a dense area where graphic objects are densely located. It can be determined as (1312). According to some embodiments, the density of graphic objects is calculated based on the area in which at least one graphic object is visualized within a predetermined unit area, and when the calculated density of graphic objects is greater than or equal to a threshold value, the density of graphic objects including the corresponding graphic object is calculated. The area may be determined to be a dense area.

In response to the dense area 1312 being determined, the first browser may be controlled so that the dense area 1312 is automatically enlarged or zoomed in for a predetermined time and displayed, as shown in the second screen 1320 of FIG. 13. As another example, in response to the pointer being positioned within the dense area 1312, the first browser may be controlled to display the dense area enlarged or zoomed in as shown in the second screen 1320. As another example, in response to the pointer being positioned on a graphic object included in the dense area 1312, the first browser may be controlled to display the dense area enlarged or zoomed in, as shown in the second screen 1320.

According to one embodiment, the dense area 1312 may be visualized using a separate graphic element so that the user can perceive the dense area 1312. Here, the separate graphic element may include at least one of color, pattern, or shape.

Meanwhile, it may be determined whether a user input for selecting a graphic object included in the dense area 1312 is received. If it is determined that no user input for selecting a graphic object included in the dense area 1312 is received for a predetermined period of time, the enlarged dense area 1312 is reduced to its original size or the zoomed-in dense area 1312 is restored to its original size. The first browser can be controlled to zoom out. That is, if the dense area 1312 is enlarged or zoomed in, but a graphic object included in the dense area 1312 is not selected for a predetermined period of time, the dense area 1312 may be returned to its original state.

Additionally or alternatively, if it is detected that the pointer leaves the dense area 1312 after being positioned, the first browser may be controlled to return the enlarged or zoomed-in dense area 1312 to its original state. That is, after the pointer is positioned in the dense area 1312, if it moves out of the dense area 1312, the enlarged or zoomed-in dense area 1312 may be reduced to its original size or zoomed out.

Meanwhile, the area selected by the user in the first browser may be enlarged. For example, the first information output area 930 and the second information output area 940 of FIG. 9 may be enlarged based on the user's input. The user can select an area to be enlarged by dragging the pointer, and the area selected by the user can be enlarged or zoomed in and displayed through the first browser. Additionally, users can enlarge or zoom in on a desired area through touch gestures such as pinch zoom.

FIG. 14 is a diagram illustrating an enlarged area 1400 in the first browser. As illustrated in FIG. 14, when a partial area included in the first information output area and/or the second information output area included in the first browser is dragged, the dragged area 1430 is enlarged or zoomed in to display the first information. It may be output to the output area and/or the second information output area.

Figure 14 illustrates that a partial region 1430 included in the second chromosome is enlarged or zoomed in and printed. As illustrated in Figure 14, when only a partial region of the entire nucleotide sequence region is output, location information 1410 of the output region is output, and a link icon 1420 providing information related to the output region is activated. and can be output.

Meanwhile, a plurality of chromosomes included in the genome may be selected and output. For example, the Chromosome menu included in the menu area 910 illustrated in FIG. 9 may be selected to output a chromosome list, and information on a plurality of chromosomes selected from the chromosome list may be output through the first browser. When a plurality of chromosomes are selected, the information output area is divided into numbers corresponding to the number of chromosomes selected through the first browser, and information associated with each of the selected plurality of chromosomes may be output in the divided information output area.

FIG. 15 is a diagram illustrating a screen 1500 of a first browser on which two chromosomes are displayed, according to an embodiment of the present disclosure. Figure 15 illustrates that only chromosomes 7 and 14 are selected, and information related to chromosomes 7 and 14 is output through the first browser. For example, when a list of chromosomes included in the Chromosome menu is displayed and chromosomes 7 and 14 are selected from the chromosome list, the information output area may be divided into two through the first browser (1510, 1520). In this case, information related to chromosome 7 may be output in the divided first region 1510, and information related to chromosome 14 may be output in the divided second region 1520.

Meanwhile, one or three or more chromosomes may be selected from the chromosome list included in the Chromosome menu, and in this case, chromosome-related information corresponding to the selected number may be output in the information output area.

Meanwhile, a specific type of structural variation is discovered from a plurality of chromosomes, and information (eg, visualized information) associated with the specific type of structural variation may be displayed in the first browser at the discovered position. For example, if a specific type of structural mutation is found in both chromosome 2 and chromosome 15, a specific structure is displayed in each of the region associated with chromosome 2 and the region associated with chromosome 15 among the first information output area of the first browser. Visualization information about mutations may be output. With the visualization information associated with a specific type of structural variation located in a plurality of chromosomal regions, the first browser may receive a user input for selecting a specific type of structural variation. For example, user input may be received to select visualization information associated with a specific type of structural variant or to select a filter object associated with a specific type of structural variant.

In this case, the first browser may be controlled to output only information related to at least one chromosome in which a specific type of structural mutation has been discovered. For example, when a specific type of structural variant is found on both chromosomes 2 and 15, and a user input selecting a specific type of structural variant is received, only the information associated with chromosome 2 and the information associated with chromosome 15 are displayed. The first browser can be controlled so that output is output in this first browser. In this case, the information output area of the first browser is divided by the number of chromosomes involved, and information associated with each chromosome may be output in the divided information output area.

FIG. 16 is a diagram illustrating in more detail the fifth sub-area 750 where the second browser of FIG. 7 is displayed. As illustrated in FIG. 16, the second browser has a transcription model area 1610 where the currently selected transcription model is output, and location information where information about the position of the positive strand in the DNA double helix is output. Area 1620, an icon area 1630 where a link icon for accessing an external database is output, an information output area 1640 where sequence information about mutations is output, and a description area 1650 that explains the mutation type for each graphic object. It may be composed of a layout that includes. Here, the sequence information may include an RNA (Ribonucleic acid) sequence in which a portion of a DNA sequence is transcribed by a transcription model and/or an amino acid sequence translated corresponding to such sequences.

Identification information (e.g., name) for the currently selected transcription model may be output in the transcription model area 1610, and the location range (coordinate range) of this transcription model may be output in the position information area 1620. If the transcription model is changed, the identification information output to the transcription model area 1610 and the position information output to the position information area 1620 may change, and the sequence information output to the information output area 1640 may also change. You can.

In the icon area 1630, an external database that provides at least one of the following: a detailed description of the gene being output in the output area 1640 and well-known mutations related to the gene, comment information, treatment method, effect due to the treatment method, etc. A link icon that can be accessed may be displayed. The method of activating the link icon may be the same as the method of activating the link icon described with reference to FIG. 8.

As described in the description area 1650, each variation can be visualized in the information output area 1640 using different graphic objects depending on the type. For example, a missense mutation can be visualized in the information output area 1640 using a first graphic object in the form of a circle in a first color, and a truncating mutation can be in the form of a circle in a second color. A second graphic object having a can be used to visualize in the information output area 1640, and the transition associated with inframe insertion can be done by using a third graphic object having a first color and a downward arrow shape. It can be visualized in the information output area 1640. In addition, as illustrated in the description area 1650 , various graphic objects may be used so that the corresponding type of variation can be visualized in the information output area 1640 .

In the information output area 1640, a DNA base sequence, an RNA sequence in which the DNA base sequence is transcribed, an amino acid sequence translated corresponding to such sequences, and/or other genetic information may be output. The information output area 1640 includes an exon associated with the selected gene, an amino acid sequence translated from the base sequence, a base sequence region subject to translation, an untranslated region that is not translated from the base sequence, Domain information, etc. may be output. In the nucleotide sequence region subject to translation, a plurality of bases obtained from the sample can be output, and the mutated bases and the bases of the reference nucleotide sequence that serve as a standard for comparison can be output together. In the amino acid sequence region, a plurality of amino acid identifiers with translated bases may be output. Additionally, amino acid change information including an amino acid identifier where a mutation occurred and an amino acid identifier at a position corresponding to the amino acid where a mutation occurred in the amino acid sequence according to the reference base sequence may be output in the amino acid information area.

Here, the reference base sequence may be a base sequence that serves as a standard for alignment. Additionally, the reference amino acid may be an RNA sequence in which some bases included in the reference sequence are transcribed, or an amino acid sequence translated from such an RNA sequence. The reference amino acid can be used as reference information to determine whether the amino acid has mutated. Additionally, the reference base may be a base included in the reference base sequence, and the reference amino acid identifier may be an amino acid identifier included in the reference amino acid.

Through the information output in the information output area 1640, the user can check how the base sequence is translated into amino acids according to the transcription model and determine how the mutation found in the base sequence of the sample affects the amino acid sequence. You can.

The section from '0' to '465aa' illustrated in Figure 16 may be an amino acid region translated from a partial region of the base sequence. In addition, the numbers '1', '2', and '3' written in the boxes illustrated in FIG. 16 may indicate that the intron region is excluded and the exon region is numbered in the DNA.

Additionally, at the bottom of the information output area 1640, mutation information about the base and information about amino acids changed compared to the reference amino acid may be output. That is, amino acid change information indicating the difference between the amino acid being compared and the reference amino acid may be output to the information output area 1640. When a specific area of the second browser is dragged, the dragged area may be enlarged and output in the information output area 1640. When the output area 1640 is enlarged, the amino acid identifier and characters related to the base are displayed, allowing the user to identify the mutated base and amino acid identifier.

According to one embodiment, a graphic object 1660 may be output to the information output area 1640 in association with the location of a mutation in the selected gene. As described above, a graphic object 1660 related to the type of mutation may be output to the information output area 1640.

A pointer may be used to select the graphic object 1660 output to the information output area 1640. That is, a user input selected by the mutation-related graphic object 1660 output to the information output area 1640 may be received. In response to a user input selected by the graphic object 1660, detailed information about the corresponding mutation may be output.

FIG. 17 is a diagram illustrating a screen 1700 on which detailed information about mutations is displayed, according to an embodiment of the present disclosure. As illustrated in FIG. 17 , detailed information 1710 about the mutation may be output in response to a user input in which a graphic object 1660 associated with the mutation is selected.

Detailed information on the analysis results of the mutation (1710) includes chromosomal information, base position information related to the location of the mutation, HGVSc information related to the mutation in DNA, HGVSp information related to the amino acid mutation, and reference allele at the position. It may include '# of ref.READ' information and '# of alt.READ' information related to the count number of the trait (allele), VAF (Variant allele frequency) value, and TCF value. Here, the TCF value is the proportion of samples that have the corresponding mutation, and may be a value deduced arithmetically by combining various surrounding information. Additionally, details 1710 about the results of the analysis of mutations may include other items, such as COSMIC and ClinVar, PolyPhen, SIFT, etc. Here, PolyPhen and SIFT may be the result of inferring the effect of the mutation on the function of the gene based on the conservation of the sequence (for example, the degree to which the exact same sequence exists in monkeys).

According to one embodiment, user input requesting comparison for a specific mutation associated with graphical object 1660 may be received. In this case, the information processing system may receive a comparison request for a specific mutation from the user terminal, and may identify other specimens included in the project associated with the specimen in response to receiving the comparison request. Subsequently, the information processing system can extract detailed information about specific mutations found in other identified specimens from the database and transmit them to the user terminal. In this case, the user terminal can output the detailed information about the specific mutation found in the sample and the detailed information about the specific mutation found in other samples through the user interface. Detailed information about each associated mutation can be displayed on one screen through the user interface. Accordingly, users can compare detailed information about different samples through one screen.

Meanwhile, the user terminal can store all information related to the project. With all information related to the project stored in the user terminal, when a user input requesting comparison of a specific mutation associated with the graphic object 1660 is received, the user terminal provides genome analysis information to other samples from the saved project information. It is possible to extract and obtain detailed information about a specific mutation from the extracted genome analysis information. Subsequently, the user terminal can associate detailed information about the specific mutation found in the sample with detailed information about the specific mutation found in other samples and output it through the user interface.

Meanwhile, when the graphic object 1660 associated with the mutation is selected, the amino acid region associated with the mutation may be automatically enlarged.

Figure 18 is a diagram illustrating an information output area 1800 set to enlarge and display a specific region of the base sequence and amino acid sequence. In response to a user input for selecting the graphic object 1660 associated with a specific mutation, a specific region of the amino acid sequence and a specific region of the base sequence associated with a specific mutation may be enlarged or zoomed in and displayed. As the amino acid sequence and specific regions of the base sequence are zoomed in and displayed, the letters associated with each mutated base and amino acid identifier are enlarged and displayed, allowing the user to recognize the base and amino acid identifier with the naked eye.

If it is determined that the amino acid is different from the reference amino acid, amino acid change information 1810 including the identifier of the reference amino acid and the mutated amino acid identifier may be output to the information output area 1800.

The amino acid change information 1810 of FIG. 18 includes 'C' as the base of the reference sequence, 'T' as the base mutated in the sample, 'P' as the reference amino acid identifier, and 'L' as the mutated amino acid identifier. This is illustrated as being included. According to the amino acid change information (1810) in FIG. 18, compared to the reference base sequence, the base of the sample is mutated from 'C' to 'T', and compared to the reference amino acid, the amino acid of the sample is changed from 'P' to 'L'. It can be interpreted as a mutation.

An enlarged screen as shown in Figure 18 can also be achieved through dragging a pointer or a touch gesture. That is, when the area associated with FIG. 18 is dragged through the pointer, the area illustrated in FIG. 18 may be enlarged and displayed.

A list of transcription models from which a transcription model can be selected may be displayed in the second browser. The transcription model list may include multiple transcription models associated with some regions within the base sequence. For example, when a first region spanning from the first point to the second point within the entire base sequence is selected, a plurality of transcription models capable of transcribing and translating part or all of the first region are included in the transcription model list. may be included in

According to one embodiment, the information processing system transcribes and translates the base sequence obtained from the specimen through each transcription model, and includes the results translated through each transcription model in the genome analysis information.

FIG. 19 is a diagram illustrating a second browser 1900 in which a list of transcription models is output. In response to receiving user input requesting a transcription model list, a transcription model list 1910 may be output. In response to receiving a user input for selecting a specific transcription model from among the transcription models included in the transcription model list 1910, the second browser may be controlled to reflect results transcribed and translated by the selected specific transcription model.

Meanwhile, each transcription model may have a priority. These priorities may be predetermined based on conditions such as frequency of use, may be pre-assigned by an expert analyst, or may be determined through text ascending/descending order.

If the area displayed in the first browser changes, the transcription model list may change in relation to the area. When the transcription model list is changed in this way, the target transcription model to be output to the second browser may be determined based on the priority of each transcription model included in the transcription model list. That is, based on the priority of each transcription model included in the transcription model list, the transcription model with the highest priority is determined as the target transcription model, and genetic information including the results transcribed and translated through the determined target transcription model is second. It can be output through a browser.

Meanwhile, when a specific chromosome is selected in the first browser, the first browser and the second browser may operate in conjunction with each other based on the selected specific chromosome.

FIG. 20 is a diagram illustrating a screen 2000 of a first browser on which information associated with a specific chromosome is displayed, according to an embodiment of the present disclosure. In Figure 20, in response to chromosome 1 being selected, information (2010) related to the location and size of chromosome 1 is output, and only information related to chromosome 1 is selected and output in the information output area (2020). It is illustrated.

In response to information related to chromosome 1 being output through the first browser, information output to the second browser may also be changed.

FIG. 21 is a diagram illustrating a screen 2100 of a second browser that operates in conjunction with a gene associated with a chromosome selected in the first browser. As illustrated in Figure 21, a list of transcription models capable of transcribing and translating the specific gene 'ARID1A' region contained in chromosome 1 is obtained, and based on the priority of each transcription model included in the transcription model list, A target transcription model to be output may be determined.

Information 2110 related to the determined target transcription model may be output through the second browser. Additionally, information 2120 related to the area and size to be transcribed and translated through the target transcription model may be output through the second browser. Additionally, genetic information 2130 including results transcribed and translated by the target transcription model may be output through the second browser.

As described above, when a specific chromosome is selected in the first browser, genetic information associated with the specific chromosome may be displayed in the second browser.

Meanwhile, when specific mutation information/gene label is selected from the driver list, the first browser and the second browser can be controlled to output information related to the selected mutation information/gene label.

FIG. 22 is a diagram illustrating a screen 2210 of a first browser and a screen 2220 of a second browser operated based on mutation information selected from the driver list. For example, in response to user input selecting 'CNTNAP2' and/or mutation information related to 'CNTNAP2' from the driver list, only information related to the 7th chromosome where the 'CNTNAP2' gene is located is displayed in the information output area through the first browser. It can be output at (2214). That is, when the user selects 'CNTNAP2' and/or a mutation related to 'CNTNAP2' from the driver list, only chromosome 7 where the 'CNTNAP2' gene is found is selected and output to the information output area 2214 through the first browser. It can be. Information 2212 indicating that the chromosome related to the 'CNTNAP2' gene is chromosome 7 may be output through the first browser, and in addition, the gene label 'CNTNAP2' 2216 may be output through the first browser.

In addition, a list of transcription models associated with the region where the 'CNTNAP2' gene is located on the 7th chromosome is obtained, and a target transcription model can be determined based on the priority of each transcription model included in the transcription model list. Genetic information including results transcribed and translated by the target transcription model may be output to the information output area 2224 through the second browser. Additionally, information 2222 including identification information of the target transcription model and a location area translated into the target transcription model may be output through the second browser.

As described above, the information output to each of the first browser and the second browser can be changed together by selecting mutation information/gene label included in the driver list.

FIG. 23 is a diagram illustrating another example of a first browser screen 2310 and a second browser screen 2320 that operate based on mutation information selected from the driver list. For example, in response to a user input selecting 'MYCN' and/or mutation information related to 'MYCN' from the driver list, only information related to the second chromosome where the 'MYCN' gene is located is displayed in the information output area through the first browser. It can be output at (2314). Information 2312 indicating that the chromosome related to the 'MYCN' gene is chromosome 2 may be output through the first browser, and in addition, 'MYCN' 2316, a gene label, may be output through the first browser.

In addition, a list of transcription models associated with the location region where the 'MYCN' gene is located in the second chromosome is obtained, and a target transcription model can be determined based on the priority of each transcription model included in the obtained transcription model list. Genetic information including results transcribed and translated by the target transcription model may be output to the information output area 2324 through the second browser. Additionally, information 2322 including identification information of the target transcription model and a location area translated into the target transcription model may be output through the second browser.

FIG. 24 is an enlarged view of the sixth sub-area 760 of FIG. 7. As illustrated in FIG. 24 , as illustrated in the enlarged sixth sub-region 760, a list (2420 to 2440) of genes in which major mutations associated with a specific disease occur can be output. For example, this list 2420 to 2440 may include labels of genes in which representative mutations associated with a particular cancer are found.

In the sixth sub-region 760, an input box 2410 where major genes can be added can be displayed. The user can add a gene label associated with a specific mutation to the gene list by entering the gene label into the input box 2410.

Gene lists 2420 to 2440 may include gene labels visualized with different graphic elements for each gene type. According to one embodiment, among the genes included in the gene list, the gene label 2420 found in the sample and included in the cancer-causing driver (Oncogene driver) list is visualized using the first graphic element and is displayed in the sixth sub-region. It can be output at (760). In addition, among the genes included in the gene list, the gene label 2430 found in the sample and included in the tumor suppressor driver list is visualized using a second graphic element to form a sixth sub-region 760. can be output to . In addition, among the genes included in the gene list, a gene label 2440 associated with a mutation not found in the sample may be visualized using a third graphic element and output in the sixth sub-region 760. In Figure 24, the first graphic element is illustrated as a first color, the second graphic element as a second color, and the third graphic element as a third color.

Although not shown in the drawing, the gene label added to the gene list through the input box 2410 may be visualized using the fourth graphic element and output to the sixth sub-area 760.

According to an embodiment of the present disclosure, when a specific gene label included in the gene list is selected, information on each of the first browser and the second browser may be changed in conjunction with each other based on the selected specific gene label.

FIG. 25 is a diagram illustrating a screen 2510 of a first browser and a screen 2520 of a second browser operating based on a gene selected from a gene list, according to an embodiment of the present disclosure. For example, in response to a user input of selecting 'SETD2' from the gene list, information related to the third chromosome where the 'SETD2' gene is located may be output to the information output area 2514 through the first browser. Here, it should be noted that 'SETD2' is a gene for which no mutation was found in the sample. That is, according to an embodiment of the present disclosure, the gene list may also include labels of major genes for which mutations were not found in the sample, and accordingly, user input to select the 'SETD2' gene for which no mutations were found in the sample from the gene list. This can be received.

In this case, chromosome 3, where the 'SETD2' gene is located, can be selected and output to the information output area 2514 through the first browser. Information 2512 about chromosome 3 where the 'SETD2' gene is located can be output through the first browser, and in addition, the label 2516 of the 'SETD2' gene can be output through the first browser.

In addition, a list of transcription models used to transcribe and translate the 'SETD2' gene region is obtained, and a target transcription model can be determined based on the priority of each transcription model included in the transcription model list. Genetic information including the results translated by the target transcription model may be output to the information output area 2524 through the second browser. Additionally, information 2522 including identification information of the target transcription model and a location area translated by the target transcription model may be output through the second browser.

As described above, the information displayed on each of the first browser and the second browser can be changed by selecting a mutation included in the main mutation list.

FIG. 26 is an enlarged view of the seventh sub-area 770 of FIG. 7. As illustrated in FIG. 26 , information related to a plot about the tumor mutational burden of a specimen (hereinafter referred to as a 'tumor mutation burden plot') may be output in the seventh sub-area 770. Here, the information associated with the plot for tumor mutation burden may include statistical information about different types of mutations.

For example, mutation burden statistical information for each single nucleotide variation (SNV: single nucleotide variation), indel (insertion and deletion), and structural variant (SV) found in the sample is calculated and presented in graph form. 7 It can be output to sub-area 770. In other words, a tumor mutation burden plot for the single nucleotide sequence variation (SNV) of the sample is calculated, and graphic elements related to the tumor mutation burden plot for the calculated single nucleotide variation (SNV) (This Case in Figure 26) ) can be output in the single nucleotide variation (SNV) distribution graph. In Figure 26, the tumor mutation burden plot for single nucleotide variation (SNV) is illustrated as calculated at 1.13/Mbps.

In addition, a tumor mutation burden plot for the indels discovered from the sample is calculated, and graphic elements related to the tumor mutation burden plot for the calculated indels (This Case in FIG. 26) can be output from the indel distribution graph. In Figure 26, the tumor mutation burden plot for indels is illustrated as calculated at 0.15/Mbps.

Additionally, a tumor mutation burden plot for the structural variants (SVs) found in the specimen is calculated, and a graphical element (This Case in Figure 26) related to the tumor mutation burden plot for the calculated structural variants is output in the structural variant distribution graph. It can be. In Figure 26, the tumor mutation burden plot for structural mutations is illustrated as calculated at 1.61/Mbps.

Meanwhile, in some embodiments, user input requesting comparison of tumor mutational burden may be received through a user interface. In this case, the information processing system may receive a request for comparison of tumor mutation burden from the user terminal, and in response to receiving the comparison request, the information processing system may receive a comparison request from the project containing the sample or all projects stored in the information processing system 230. Specimens can be identified. Subsequently, the information processing system may extract information associated with the tumor mutation burden plot for other identified samples from the database and transmit it to the user terminal. Subsequently, the user terminal may associate the information related to the tumor mutation burden plot for the sample and the information related to the tumor mutation burden plot for other samples and output the information through the user interface. Information related to the tumor mutation burden plot for related samples and other samples can be displayed on one screen through the user interface. For example, statistical information related to the tumor mutation burden plot for other samples and statistical information related to the tumor mutation burden plot for the sample (e.g., statistical information related to FIG. 26) may be displayed on a user interface so that they can be compared on one screen. .

Meanwhile, all information related to the project can be stored in the user terminal. With all information related to the project stored in the user terminal, when a user input requesting a comparison of the tumor mutation burden is received, information related to the tumor mutation burden plot for other samples can be extracted from the saved project information. . Subsequently, the user terminal can output information related to the tumor mutation burden plot for the sample and information related to the tumor mutation burden plot for other samples through the user interface.

FIG. 27 is an enlarged view of the eighth sub-area 780 of FIG. 7. As illustrated in FIG. 27 , mutational signature information about the specimen may be output to the eighth sub-area 780. Mutation signature information may include SBS mutation information and indel mutation information. As illustrated in FIG. 27 , information 2710 to 2740 output to the fourth sub-area 780 may be output in the form of a graph.

As illustrated in FIG. 27 , first SBS variation information 2710 including the occupancy ratio for each SBS category may be output to the eighth sub-area 780. Here, the SBS category may include SBS1, SBS4, SBS5, SBS40, etc. In Figure 27, the SBS mutations discovered from the sample are SBS1, SBS4, SBS5, and SBS40, and the proportions occupied by each of SBS1, SBS4, SBS5, and SBS40 in the total SBS are calculated, and the calculated proportions are output in the form of a donut graph. It is illustrated. In Figure 27, SBS4 and SBS1 are Etc. It is illustrated as being included in the area, etc. When a pointer is moved to an area and then clicked (or touched), the ratio occupied by SBS4 and SBS1 can be output in a donut graph.

Additionally, cosine similarity between the reference SBS mutation information and the SBS mutation information analyzed from the sample is calculated, and the calculated SBS cosine similarity may be included in the first SBS mutation information 2710. Here, the reference SBS variation information is information that serves as a standard for calculating SBS cosine similarity, and may be pre-stored in the information processing system and/or user terminal or in any storage medium accessible by the information processing system and/or user terminal. You can. In Figure 27, it is illustrated that the SBS cosine similarity is 0.965.

Additionally, mutations associated with SBS are classified according to mutation type (i.e., C>A, C>G, C>T, T>A, T>C, and T>G), and the proportion of each type is calculated. The included second SBS variation information 2720 may be output to the eighth sub-area 780. As shown in FIG. 27, a bar graph showing the ratio of each SBS mutation type may be included in the second SBS mutation information 2720 and output in the eighth sub-area 780.

Additionally, first indel mutation information 2730 including the occupancy ratio for each indel category may be output to the eighth sub-region 780. Here, the indel category may include various indels such as ID1, ID2, ID3, ID4, ID5, ID6, etc. In Figure 27, the indel mutations found in the sample are ID1, ID2, ID3, ID4, ID5, ID6, ID9, ID10, ID12, ID14, ID17, and ID18, and the proportion of each indel in all indels is calculated, and the calculated ratio This is illustrated as being output to the eighth sub-area 780 in the form of a donut graph. In Figure 27, indel mutations other than ID2 and ID7 are Etc. It is illustrated as being included in the area, etc. When a pointer is moved to an area and then clicked (or touched), the proportion of indel mutations of other types other than ID2 and ID7 can be output in a donut graph.

Additionally, the cosine similarity between the reference indel mutation information and the indel mutation information analyzed from the sample is calculated, and the calculated indel cosine similarity may be included in the first indel mutation information 2730. Here, the reference indel mutation information is information that serves as a standard for calculating indel cosine similarity, and may be stored in advance in the information processing system and/or user terminal. In Figure 27, it is illustrated that the indel cosine similarity is 0.998.

In addition, mutations related to indels are classified according to mutation type (i.e., 1bp deletion, 1bp insertion, etc.), and second indel information 2740, including the proportion of each classified mutation type, is stored in the 8th sub-region 780. It can be output to . As illustrated in FIG. 27 , a bar graph showing the ratio of each type of indel mutation may be output in the eighth sub-region 780.

FIG. 28 is a flowchart illustrating a method 2800 for providing genetic information analysis results according to an embodiment of the present disclosure. The method shown in FIG. 28 is only an example to achieve the purpose of the present disclosure, and of course, some steps may be added or deleted as needed. Additionally, the method shown in FIG. 28 may be performed by at least one processor included in the information processing system and/or at least one processor included in the user terminal. For convenience of explanation, it will be described that each step shown in FIG. 28 is performed by a processor included in the user terminal shown in FIG. 3.

The processor may output a user interface to provide genetic information analysis results for the sample (S2810). According to one embodiment, a list of genes associated with a specific disease is displayed in the first area included in the user interface, and the second area included in the user interface is used to visualize and explore information about mutations obtained by analysis of a sample. The first browser for may be output. Additionally, a second browser for searching sequence information obtained by analysis of a specimen may be displayed in the third area included in the user interface. According to one embodiment, the first browser and the second browser may operate in conjunction with each other.

Thereafter, the processor may output interactive response information including detailed information about the genetic information analysis results to at least one area included in the user interface in response to the user input received through the user interface. (S2820).

According to one embodiment, the processor may receive a user input for selecting a gene in which a specific mutation has occurred from a list of genes output in the first region. Subsequently, the processor may control the first browser to output the region of the gene in which the selected specific mutation occurs in response to a user input for selecting a specific mutation. Additionally, the processor may control the second browser to output the region of the gene in which the specific mutation occurred among the sequence information in response to a user input for selecting the gene in which the specific mutation occurred.

According to one embodiment, a graphic object indicating the location of a specific mutation may be displayed within the area displayed on the second browser. In response to receiving a user input for selecting a graphic object, the processor may output detailed information about a specific mutation among the genetic information analysis results for the sample through a second browser.

According to one embodiment, the processor obtains a list of transcription models associated with a gene in which a specific mutation has occurred, determines a target transcription model to be output based on the priority of each of the plurality of transcription models included in the transcription model list, and then determines the target transcription model to be output. The second browser can be controlled so that amino acid sequence information including the results transcribed and translated through the target transcription model is output.

According to one embodiment, when the processor determines that the first amino acid associated with the gene in which a specific mutation occurred is different from the second amino acid translated from the reference base sequence, the processor provides amino acid change information indicating the difference between the first amino acid and the second amino acid. You can control the second browser to output. Here, amino acid change information can be output in association with the location of a specific mutation within the sequence information.

According to one embodiment, the processor may control the second browser to output a list of transcription models. Subsequently, in response to receiving a user input for selecting a specific transcription model from a list of transcription models, the processor may control the second browser to output amino acid sequence information including results transcribed and translated through the specific transcription model. .

According to one embodiment, a specific disease is identified based on a disease code included in patient information, and the gene list may include at least one gene in which a mutation associated with the specific disease occurs among mutations found in the sample.

The specific disease is a disease related to cancer, and the gene list includes a first driver list including at least one gene in which a mutation related to the cause of the disease occurs among the mutations found in the sample and a list of genes used to suppress the disease among the mutations found in the sample. A second driver list containing at least one gene in which a related mutation has occurred may be included. According to one embodiment, the processor visualizes the label of at least one gene included in the first driver list in the first area using a first graphic element, and displays the label of at least one gene included in the second driver list in the first region. 2 It can be visualized in the first area using graphic elements.

According to one embodiment, a graphic object associated with the location of a specific mutation may be displayed within the area displayed on the second browser. Additionally, in response to receiving a user input for selecting a graphic object, the processor may control the second browser to display an enlarged sequence information area associated with a specific mutation among the sequence information. In the enlarged area, letters associated with at least one of the mutated base or amino acid identifier may be displayed.

According to one embodiment, the processor receives a user's comment through a comment input box included in the fourth area of the user interface and then provides the received user's comment to at least one other user participating in a project related to the sample. You can.

According to one embodiment, the processor may acquire first information associated with a plot about the tumor mutation burden for the specimen and output the obtained first information to the fifth area of the user interface. The first information may include tumor mutation burden statistics for at least one of a single base sequence mutation for the sample, an indel for the sample, or a structural mutation for the sample.

According to one embodiment, the processor may obtain second information associated with a plot of tumor mutation burden for other specimens, and output the first information and second information in association with each other through a user interface.

According to one embodiment, the processor may obtain detailed information about a specific mutation found in another sample in response to receiving a user input requesting comparison of a specific mutation among mutations found in the sample. The processor can then output the correlation between detailed information about the specific mutation found in the sample and detailed information about the specific mutation found in other samples.

According to one embodiment, an input box where a gene name is input may be displayed in the first region. In response to receiving a gene name entered through an input field, the processor may add the gene of the received name to the gene list.

According to one embodiment, the processor may receive a user input for selecting a specific chromosome or a specific gene through the first browser. The processor may control the second browser to output a region corresponding to the specific chromosome or specific gene selected from sequence information in response to a user input for selecting a specific chromosome or specific gene. Additionally, in response to receiving a user input for selecting a specific chromosome or a specific gene, the processor may control the first browser to display only a region corresponding to at least one chromosome associated with the specific chromosome or specific gene.

According to one embodiment, labels of genes associated with multiple mutations found in a sample may be output in association with the location of each gene. For example, the label of a gene related to a mutation related to causing a disease may be visualized using a first graphic element, and the label of a gene related to a mutation related to suppressing a disease may be visualized using a second graphic element. Additionally, the label of a gene associated with a mutation not found in the sample among the list of mutations associated with the disease may be visualized using a third graphic element through the first browser.

According to one embodiment, each structural mutation discovered from the sample may be visualized through the first browser using a number of graphic objects corresponding to the number of structural mutations. The first browser may determine at least one of the shape, color, or size of the graphic object based on the type of target structural variation to be expressed. The graphical object can be visualized via the first browser with a range corresponding to the region of the target structural variation.

According to one embodiment, the processor may determine whether the number of graphic objects greater than a threshold is located within the threshold distance.

For example, in response to determining that more than a threshold number of graphic objects are located within a threshold distance and that a pointer is located on a specific graphic object included in the threshold distance, the processor sends the first browser to highlight and visualize the specific graphic object where the pointer is located. can be controlled. Additionally or alternatively, the processor may control the first browser so that, among graphic objects included within the threshold distance, graphic objects other than the specific graphic object on which the pointer is located are removed or blurred.

As another example, in response to determining that a number of graphic objects greater than a threshold is included within the threshold distance, the processor controls the first browser to highlight and visualize graphic objects located within the threshold distance while rotating at preset time intervals. You can.

As another example, in response to determining that a number of graphic objects greater than a threshold is included in the threshold distance, the processor determines the area including the threshold distance to be a dense area, and when it is detected that the pointer is located in the dense area, The first browser can be controlled to expand the dense area. The processor may control the first browser to visualize the dense area using the fourth graphical element. Additionally, the processor determines whether a user input for selecting a graphical object included in a dense area is received, and then in response to determining that a user input for selecting a graphical object included in the dense area is not received for a predetermined period of time. , the first browser can be controlled to reduce the enlarged dense area to its original size. If the processor detects that the pointer leaves the dense area after the dense area is enlarged, the processor may control the first browser to reduce the enlarged dense area to its original size.

According to one embodiment, in response to receiving a user input for selecting a plurality of chromosomes through the first browser, the processor may control the first browser to output information associated with the selected plurality of chromosomes. In this case, the first browser may divide the information output area into numbers corresponding to the number of selected chromosomes and output information associated with each of the selected plurality of chromosomes on the divided screen.

According to one embodiment, information about at least one structural variant is output to the first browser, and the processor displays the first browser in response to receiving a user input for selecting a specific structural variant, so that the selected specific structural variant is found. The first browser can be controlled so that only information related to at least one chromosome is output.

According to one embodiment, filter objects for each mutation type may be displayed on the user interface. The processor receives a user input for selecting at least one filter object from among the output filter objects for each mutation type, and in response to receiving the user input for selecting at least one filter object, selects a filter object selected from the information about the obtained mutation. The first browser can be controlled so that only information about mutations corresponding to is selected and output.

The above flowchart and above description are only examples and may be implemented differently in some embodiments. For example, in some embodiments, the order of each step may be changed, some steps may be performed repeatedly, some steps may be omitted, or some steps may be added.

The above-described method may be provided as a computer program stored in a computer-readable recording medium for execution on a computer. Media may be used to continuously store executable programs on a computer, or may be temporarily stored for execution or download. In addition, the medium may be a variety of recording or storage means in the form of a single or several pieces of hardware combined. It is not limited to a medium directly connected to a computer system and may be distributed over a network. Examples of media include magnetic media such as hard disks, floppy disks, and magnetic tapes, optical recording media such as CD-ROMs and DVDs, magneto-optical media such as floptical disks, and There may be something configured to store program instructions, including ROM, RAM, flash memory, etc. Additionally, examples of other media include recording or storage media managed by app stores that distribute applications, sites or servers that supply or distribute various other software, etc.

The methods, operations, or techniques of this disclosure may be implemented by various means. For example, these techniques may be implemented in hardware, firmware, software, or a combination thereof. Those skilled in the art will understand that the various illustrative logical blocks, modules, circuits, and algorithm steps described in connection with the disclosure herein may be implemented in electronic hardware, computer software, or combinations of both. To clearly illustrate this interchange of hardware and software, various illustrative components, blocks, modules, circuits, and steps have been described above generally in terms of their functionality. Whether such functionality is implemented as hardware or software depends on the specific application and design requirements imposed on the overall system. Skilled artisans may implement the described functionality in varying ways for each particular application, but such implementations should not be interpreted as causing a departure from the scope of the present disclosure.

In a hardware implementation, the processing units used to perform the techniques may include one or more ASICs, DSPs, digital signal processing devices (DSPDs), programmable logic devices (PLDs). ), field programmable gate arrays (FPGAs), processors, controllers, microcontrollers, microprocessors, electronic devices, and other electronic units designed to perform the functions described in this disclosure. , a computer, or a combination thereof.

Accordingly, the various illustrative logical blocks, modules, and circuits described in connection with this disclosure may be general-purpose processors, DSPs, ASICs, FPGAs or other programmable logic devices, discrete gate or transistor logic, discrete hardware components, or It may be implemented or performed as any combination of those designed to perform the functions described in. A general-purpose processor may be a microprocessor, but in the alternative, the processor may be any conventional processor, controller, microcontroller, or state machine. A processor may also be implemented as a combination of computing devices, such as a DSP and a microprocessor, a plurality of microprocessors, one or more microprocessors in conjunction with a DSP core, or any other configuration.

For firmware and/or software implementations, techniques include random access memory (RAM), read-only memory (ROM), non-volatile random access memory (NVRAM), and PROM ( on computer-readable media such as programmable read-only memory (EPROM), electrically erasable PROM (EEPROM), flash memory, compact disc (CD), magnetic or marked data storage devices, etc. It may also be implemented as stored instructions. Instructions may be executable by one or more processors and may cause the processor(s) to perform certain aspects of the functionality described in this disclosure.

When implemented in software, the techniques described above may be stored on or transmitted through a computer-readable medium as one or more instructions or code. Computer-readable media includes both computer storage media and communication media, including any medium that facilitates transfer of a computer program from one place to another. Storage media may be any available media that can be accessed by a computer. By way of non-limiting example, such computer readable media may include RAM, ROM, EEPROM, CD-ROM or other optical disk storage, magnetic disk storage or other magnetic storage devices, or the desired program code in the form of instructions or data structures. It can be used to transfer or store data and can include any other media that can be accessed by a computer. Any connection is also properly termed a computer-readable medium.

For example, if the Software is transmitted from a website, server, or other remote source using coaxial cable, fiber optic cable, twisted pair cable, digital subscriber line (DSL), or wireless technologies such as infrared, radio, and microwave, , fiber optic cable, twisted pair, digital subscriber line, or wireless technologies such as infrared, radio, and microwave are included within the definition of medium. As used herein, disk and disk include CD, laser disk, optical disk, digital versatile disc (DVD), floppy disk, and Blu-ray disk, where disks are usually magnetic. It reproduces data optically, while discs reproduce data optically using lasers. Combinations of the above should also be included within the scope of computer-readable media.

A software module may reside in RAM memory, flash memory, ROM memory, EPROM memory, EEPROM memory, registers, hard disk, removable disk, CD-ROM, or any other form of storage medium known. An exemplary storage medium may be coupled to the processor such that the processor may read information from or write information to the storage medium. Alternatively, the storage medium may be integrated into the processor. The processor and storage medium may reside within an ASIC. ASIC may exist within the user terminal. Alternatively, the processor and storage medium may exist as separate components in the user terminal.

Although the above-described embodiments have been described as utilizing aspects of the presently disclosed subject matter in one or more standalone computer systems, the disclosure is not limited thereto and may also be implemented in conjunction with any computing environment, such as a network or distributed computing environment. . Furthermore, aspects of the subject matter of this disclosure may be implemented in multiple processing chips or devices, and storage may be similarly effected across the multiple devices. These devices may include PCs, network servers, and portable devices.

Although the present disclosure has been described in relation to some embodiments in this specification, various modifications and changes may be made without departing from the scope of the present disclosure as can be understood by a person skilled in the art to which the invention pertains. Additionally, such modifications and changes should be considered to fall within the scope of the claims appended hereto.

110, 230: Information processing system
120: Sequencing device
210: user terminal

Claims (18)

In a method of providing genetic information analysis results performed by at least one processor,
Outputting a user interface for providing genetic information analysis results for a sample; and
In response to a user input received through the user interface, outputting interactive response information including detailed information of the genetic information analysis result to at least one area included in the user interface.
Including,
In the first area included in the user interface, a list of genes is output,
In the second area included in the user interface, a first browser for searching information on variants obtained by analysis of the sample is displayed,
In the third area included in the user interface, a second browser for searching sequence information obtained by analysis of the sample is displayed,
The step of outputting the responsive response information to at least one area included in the user interface,
Receiving a user input for selecting a specific gene from the gene list output in the first region;
In response to a user input for selecting the specific gene, controlling the first browser to display a region related to the selected specific gene; and
In response to a user input for selecting the specific gene, controlling the second browser to output a region related to the selected specific gene among the sequence information.
Including,
The user interface is divided into a plurality of areas including the first area, the second area, and the third area, and the first area, the second area, and the third area are displayed together on one screen. become,
A graphic object associated with the location of a specific mutation is displayed in the area displayed on the second browser,
The step of outputting the responsive response information to at least one area included in the user interface,
In response to receiving a user input for selecting the graphic object, controlling the second browser to display an enlarged sequence information area associated with the specific mutation among the sequence information.
A method of providing genetic information analysis results, including.
delete According to paragraph 1,
The step of controlling the second browser includes outputting a graphic object indicating the location of a mutation occurring in the selected specific gene within the area output by the second browser,
The method is:
After the step of controlling the second browser, in response to receiving a user input for selecting the graphic object, detailed information about the mutation among the genetic information analysis results for the specimen is output through the second browser. step
A method of providing genetic information analysis results, further comprising:

According to paragraph 1,
The step of controlling the second browser is,
Obtaining a list of transcription models associated with the selected specific gene;
determining a target transcription model to be output based on the priorities of each of the plurality of transcription models included in the transcription model list; and
Controlling the second browser to output amino acid sequence information including results transcribed and translated through the determined target transcription model.
A method of providing genetic information analysis results, including.
According to paragraph 1,
The step of controlling the second browser is,
If it is determined that the first amino acid associated with the selected specific gene is different from the second amino acid translated from the reference base sequence, the second browser is displayed so that amino acid change information indicating the difference between the first amino acid and the second amino acid is output. Including controlling steps,
A method of providing genetic information analysis results, wherein the amino acid change information is output in relation to the location of a mutation occurring in the selected specific gene within the sequence information.
According to paragraph 1,
The step of outputting the responsive response information to at least one area included in the user interface,
controlling the second browser to output a list of transcription models;
Receiving a user input for selecting a specific transcription model from the transcription model list; and
Controlling the second browser to output amino acid sequence information including results transcribed and translated through the specific transcription model.
A method of providing genetic information analysis results, including.
According to paragraph 1,
Based on the disease code included in the patient information, the disease is identified,
The gene list includes at least one gene in which a mutation associated with the disease occurs among mutations found in the sample.
According to paragraph 1,
The gene list includes a first driver list including at least one gene in which a mutation related to disease-causing occurs among the mutations found in the sample, and a first driver list in which a mutation related to disease suppression occurs among the mutations found in the sample. A method of providing genetic information analysis results, comprising a second driver list containing at least one gene.
According to clause 8,
The label of at least one gene included in the first driver list is visualized in the first area using a first graphic element, and the label of at least one gene included in the second driver list is visualized in the first area using a second graphic element. A method of providing genetic information analysis results that are visualized in the first region.
delete According to paragraph 1,
A method of providing genetic information analysis results in which characters associated with at least one of a mutated base or an amino acid identifier are displayed in the expanded sequence information area.
According to paragraph 1,
Receiving a user's comment through a comment input box included in a fourth area of the user interface; and
Providing the received user's comment to at least one other user participating in a project related to the sample
A method of providing genetic information analysis results, further comprising:
According to paragraph 1,
First information associated with a plot of tumor mutation burden for the sample is output through a fifth area of the user interface,
The first information includes tumor mutation burden statistics for at least one of a single nucleotide variation for the sample, an indel for the sample, or structural variants (SV) for the sample. Including, a method of providing genetic information analysis results.
According to clause 13,
The step of outputting the responsive response information to at least one area included in the user interface,
Obtaining second information associated with a plot of tumor mutation burden for other samples; and
Step of associating and outputting the first information and the second information
A method of providing genetic information analysis results, including.
According to paragraph 1,
The step of outputting the responsive response information to at least one area included in the user interface,
Receiving a user input requesting comparison of a specific mutation among mutations found in the sample;
Obtaining detailed information about the specific mutation found in another sample; and
A step of correlating and outputting detailed information about the specific mutation found from the sample and detailed information about the specific mutation found from the other sample.
A method of providing genetic information analysis results, further comprising:
According to paragraph 1,
In the first area, an input box where the gene name is entered is displayed,
The method is:
Receiving the gene name entered through the input box; and
Adding the gene of the received name to the gene list
A method of providing genetic information analysis results, further comprising:
A computer program stored in a computer-readable recording medium for executing the method according to any one of claims 1, 3 to 9, and 11 to 16 on a computer.
As a computing device,
Memory; and
At least one processor connected to the memory and configured to execute at least one computer-readable program included in the memory
Including,
The at least one program is,
Outputs a user interface for providing genetic information analysis results for a sample, and responds to user input received through the user interface, providing interactive response information including detailed information of the genetic information analysis results. Contains commands for output to at least one area included in the user interface,
In the first area included in the user interface, a list of genes is output,
In the second area included in the user interface, a first browser for searching information on variants obtained by analysis of the sample is displayed,
In the third area included in the user interface, a second browser for searching sequence information obtained by analysis of the sample is displayed,
Outputting the responsive response information to at least one area included in the user interface includes:
Receiving a user input for selecting a specific gene from the gene list output in the first region,
In response to a user input for selecting the specific gene, controlling the first browser to display a region related to the selected specific gene,
In response to a user input for selecting the specific gene, controlling the second browser to display a region related to the selected specific gene among the sequence information,
The user interface is divided into a plurality of areas including the first area, the second area, and the third area, and the first area, the second area, and the third area are displayed together on one screen. become,
A graphic object associated with the location of a specific mutation is displayed in the area displayed on the second browser,
Outputting the responsive response information to at least one area included in the user interface includes:
In response to receiving a user input for selecting the graphic object, controlling the second browser to display an enlarged sequence information region associated with the specific mutation among the sequence information.

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