CN115440305A - Human genetic resource gene data management system and method - Google Patents

Human genetic resource gene data management system and method Download PDF

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CN115440305A
CN115440305A CN202211041199.3A CN202211041199A CN115440305A CN 115440305 A CN115440305 A CN 115440305A CN 202211041199 A CN202211041199 A CN 202211041199A CN 115440305 A CN115440305 A CN 115440305A
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黄卫东
赵琼珍
赵杰
梁齐
李彦奇
刘盼盼
郭婕
李继洋
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Xinjiang Carbon Wisdom Stem Cell Bank Co ltd
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Abstract

The invention discloses a human genetic resource gene data management system and a method, wherein the system comprises a user login module, a permission management module, a gene data storage module, a clinical information docking module, a gene data quality control module, a gene annotation module, a difference analysis module and a gene data query module. The invention realizes the local and efficient storage and management of high-flux DNA sequencing data, processing analysis and application of gene data by a method for constructing a human genetic resource gene data management system through modules such as a user login module, a permission management module, a gene data storage module, a clinical information docking module, a gene data quality control module, a gene annotation module, a difference analysis module, a gene data query module and the like, and provides great convenient service for scientific research and clinic.

Description

Human genetic resource gene data management system and method
Technical Field
The invention relates to the technical field of cell bank genetic management, in particular to a human genetic resource gene data management system and a human genetic resource gene data management method.
Background
With the development and wide application of high-throughput sequencing technology, the amount of gene detection data is increasing at the rate of TB grade, and the problems to be solved by gene data calculation and analysis are more and more complicated. The specificity and complexity of gene data require a gene detection data management system to perform basic data processing and analysis to provide convenience for scientific research and clinic.
Computers face an unprecedented challenge as the primary tool for processing DNA data, with the growth rate of DNA sequencing data far exceeding that of computer microprocessors and storage devices. Since its birth, computers have essentially followed moore's law for the rate of performance improvement, doubling microprocessor performance and memory capacity every 18 and 12 months, while DNA sequence data doubles every 9 months. The growing volume of DNA sequencing data has made it increasingly costly to store such data. How to locally and efficiently store and manage high-throughput DNA sequencing data, process analysis and apply gene data has become an important factor for restricting the further development of the DNA sequencing industry.
There is currently no effective solution to the above problems.
Disclosure of Invention
In view of the above technical problems in the related art, the present invention provides a human genetic resource gene data management system and method, which can overcome the above disadvantages in the prior art.
In order to achieve the technical purpose, the technical scheme of the invention is realized as follows:
a human genetic resource gene data management system comprises a user login module, a permission management module, a gene data storage module, a clinical information docking module, a gene data quality control module, a gene annotation module, a difference analysis module and a gene data query module;
the authority management module is used for carrying out authority distribution by adopting multi-authority management to limit the data range accessed by the user;
the gene data storage module is used for storing gene original data and mutation site data by using a storage server, synchronizing files by scanning and acquiring clinical information of a gene file source;
the clinical information docking module is used for docking the HIS system to obtain clinical information of the gene sequencer;
the gene data quality control module is used for analyzing the quality information of the gene original file by calling a FASTQ tool;
the gene annotation module is used for calling an ANNOVAR tool to annotate a gene file;
the difference analysis module is used for automatically extracting two groups of list files by inputting two groups of comparison sample lists, counting the number of the same variation sites by traversing file information, and then calculating variation differences of the two groups of the same sites;
the gene data query module is used for querying a sample list by inputting a mutation site position and querying a certain position of each sample to judge whether mutation occurs.
Further, the user login module is used for verifying the user to enter the system by using an account and a password.
A human genetic resource gene data management method comprises the following steps:
s1, a user uses an account and a password to verify and enter a system, and the system adopts multi-authority management to carry out authority distribution to limit a data range accessed by the user;
s2, the system is connected with an HIS system to obtain clinical information of a gene sequencer;
s3, the system stores the original gene data and the mutation site data by using a storage server, synchronizes the files to the system through system file scanning and acquires clinical information of a gene file source;
s4, analyzing the quality information of the gene original file by calling a FASTQ tool by the system;
s5, the system carries out annotation on gene files by calling an ANNOVAR tool;
s6, the system automatically extracts two groups of list files by inputting two groups of comparison sample lists, counts the number of the same variation sites by traversing file information, and calculates variation difference of the two groups of the same sites;
and the S7 system inquires a sample list by inputting the position of the mutation site and inquires a certain position of each sample to judge whether mutation occurs.
Further, the ANNOVAR tool in step S5 is: pl program, the input mutation file generates an output file with multiple tab separations, each column representing a set of annotations.
The invention has the beneficial effects that: the invention realizes the local and efficient storage and management of high-throughput DNA sequencing data, processing analysis and application of gene data by a method for constructing a human genetic resource gene data management system through a user login module, a permission management module, a gene data storage module, a clinical information docking module, a gene data quality control module, a gene annotation module, a difference analysis module, a gene data query module and other modules, and provides great convenient service for scientific research and clinic.
Drawings
In order to more clearly illustrate the embodiments of the present invention or the technical solutions in the prior art, the drawings needed in the embodiments will be briefly described below, and it is obvious that the drawings in the following description are only some embodiments of the present invention, and it is obvious for those skilled in the art to obtain other drawings without creative efforts.
FIG. 1 is a schematic diagram of a global module combination of a method for constructing a human genetic resource gene data management system according to an embodiment of the present invention.
Detailed Description
The technical solutions in the embodiments of the present invention will be clearly and completely described below with reference to the drawings in the embodiments of the present invention, and it is obvious that the described embodiments are only a part of the embodiments of the present invention, and not all of the embodiments. All other embodiments, which can be derived from the embodiments of the present invention by a person skilled in the art, are within the scope of the present invention.
As shown in fig. 1, a human genetic resource gene data management system according to an embodiment of the present invention includes a user login module, a rights management module, a gene data storage module, a clinical information docking module, a gene data quality control module, a gene annotation module, a difference analysis module, and a gene data query module;
the authority management module is used for carrying out authority distribution by adopting multi-authority management to limit the data range accessed by the user;
the gene data storage module is used for storing gene original data and mutation site data by using a storage server, synchronizing files by scanning and acquiring clinical information of a gene file source;
the clinical information docking module is used for docking the HIS system to obtain clinical information of the gene sequencer;
the gene data quality control module is used for analyzing the quality information of the gene original file by calling a FASTQ tool;
the gene annotation module is used for calling an ANNOVAR tool to annotate a gene file;
the difference analysis module is used for automatically extracting two groups of list files by inputting two groups of comparison sample lists, counting the number of the same variation sites by traversing file information, and then calculating variation differences of the two groups of the same sites;
the gene data query module is used for querying a sample list by inputting the position of the mutation site and querying a certain position of each sample to judge whether mutation occurs.
In an embodiment, the user login module is used for a user to access the system by using account and password authentication.
A human genetic resource gene data management method comprises the following steps:
s1, a user uses an account and a password to verify and enter a system, and the system adopts multi-authority management to carry out authority distribution to limit a data range accessed by the user;
s2, the system is connected with an HIS system to obtain clinical information of a gene sequencer;
s3, the system stores the gene original data and the mutation site data by using a storage server, synchronizes the files to the system through system file scanning and acquires clinical information of a gene file source;
s4, analyzing the quality information of the gene original file by calling a FASTQ tool by the system;
s5, the system carries out gene file annotation by calling an ANNOVAR tool;
s6, the system automatically extracts two groups of list files by inputting two groups of comparison sample lists, counts the number of the same mutation sites by traversing file information, and calculates the mutation difference of the two groups of the same sites;
and the S7 system inquires a sample list by inputting the position of the mutation site and inquires a certain position of each sample to judge whether mutation occurs.
In an embodiment, the ANNOVAR tool in step S5 is: pl program, the input mutation file generates an output file with multiple tab separations, each column representing a set of annotations.
In order to facilitate understanding of the above-described technical aspects of the present invention, the above-described technical aspects of the present invention will be described in detail below in terms of specific usage.
When the system is used specifically, the system for managing the human genetic resource gene data comprises a user login module, a permission management module, a gene data storage module, a clinical information docking module, a gene data quality control module, a gene annotation module, a difference analysis module and a gene data query module.
A human genetic resource gene data management method comprises the following steps:
1) User login and authority management:
the user uses the account number and the password to enter the system through verification; the system adopts multi-authority management; the range of data that a user can access is restricted by the permission assignment.
3) Clinical data docking
The system is connected with an HIS system to obtain clinical information of a gene sequencer.
4) Gene data storage
Storing the gene original data and the mutation site data by using a storage server; synchronizing files to a system through system file scanning; and obtaining clinical information of the gene file source.
5) Gene data quality control:
the system analyzes the quality information of the gene raw file by calling the FASTQ tool.
6) Gene annotation
The system performs gene file annotation by calling the ANNOVAR tool.
7) Difference analysis
Two groups of list files are automatically extracted by inputting two groups of comparison sample list systems; by traversing the file information; counting the number of the same variation sites; then, the variation difference between the two groups of the same sites is calculated.
8) Genetic data query
Inquiring a sample list by inputting the position of the mutation site; and inquiring a certain position of each sample to judge whether mutation occurs.
In summary, with the aid of the technical scheme, the method for constructing the human genetic resource gene data management system through the user login module, the authority management module, the gene data storage module, the clinical information docking module, the gene data quality control module, the gene annotation module, the difference analysis module, the gene data query module and other modules realizes local and efficient storage and management of high-throughput DNA sequencing data, processing analysis and application of gene data, and provides great convenient services for scientific research and clinic.
The above description is only for the purpose of illustrating the preferred embodiments of the present invention and is not to be construed as limiting the invention, and any modifications, equivalents, improvements and the like that fall within the spirit and principle of the present invention are intended to be included therein.

Claims (4)

1. A human genetic resource gene data management system is characterized by comprising a user login module, a permission management module, a gene data storage module, a clinical information docking module, a gene data quality control module, a gene annotation module, a difference analysis module and a gene data query module;
the authority management module is used for carrying out authority distribution by adopting multi-authority management to limit the data range accessed by the user;
the gene data storage module is used for storing gene original data and mutation site data by using a storage server, synchronizing files by scanning and acquiring clinical information of a gene file source;
the clinical information docking module is used for docking the HIS system to obtain clinical information of the gene sequencer;
the gene data quality control module is used for analyzing the quality information of the gene original file by calling a FASTQ tool;
the gene annotation module is used for calling an ANNOVAR tool to annotate the gene file;
the difference analysis module is used for automatically extracting two groups of list files by inputting two groups of comparison sample lists, counting the number of the same variation sites by traversing file information, and then calculating variation differences of the two groups of the same sites;
the gene data query module is used for querying a sample list by inputting the position of the mutation site and querying a certain position of each sample to judge whether mutation occurs.
2. The human genetic resource data management system of claim 1, wherein the user login module is configured to allow a user to access the system using account and password authentication.
3. A human genetic resource gene data management method is characterized by comprising the following steps:
s1, a user uses an account and a password to verify and enter a system, and the system adopts multi-authority management to carry out authority distribution to limit a data range accessed by the user;
s2, the system is connected with an HIS system to obtain clinical information of a gene sequencer;
s3, the system stores the original gene data and the mutation site data by using a storage server, synchronizes the files to the system through system file scanning and acquires clinical information of a gene file source;
s4, analyzing the quality information of the gene original file by calling a FASTQ tool by the system;
s5, the system carries out gene file annotation by calling an ANNOVAR tool;
s6, the system automatically extracts two groups of list files by inputting two groups of comparison sample lists, counts the number of the same mutation sites by traversing file information, and calculates the mutation difference of the two groups of the same sites;
and S7, the system inquires a sample list by inputting the position of the mutation site, and inquires a certain position of each sample to judge whether mutation occurs.
4. The method for human genetic resource gene data management according to claim 3, wherein the ANNOVAR tool in step S5 is: pl program, the input mutation file generates an output file with multiple tab separations, each column representing a set of annotations.
CN202211041199.3A 2022-08-29 2022-08-29 Human genetic resource gene data management system and method Pending CN115440305A (en)

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