CN110246581A - Assessment system based on genetic test - Google Patents
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Abstract
The invention discloses the assessment systems based on genetic test, comprising: data acquisition module: can obtain genome sequence by the high-flux sequence data of detection sample to be assessed；Identification module: the mononucleotide polymorphism site on genome sequence for identification obtains the genotype of mononucleotide polymorphism site；Allele matching module: the genotype of mononucleotide polymorphism site genotype corresponding with phenotype each in database is compared, genotype comparing result is obtained；Evaluation module: it is assessed according to genotype comparing result, obtains assessment result；Evaluation module includes disease risks evaluation module, and disease risks evaluation module is used to assess the risk of disease；Report generation module: for assessment result to be formed assessment report.The present invention can assess the disease risk of individual, additionally it is possible to according to the personal characteristics of the Rational drug use of the result of genetic test guidance individual, assessment individual.
Description
Technical field
The present invention relates to field of bioinformatics, in particular to based on the assessment system of genetic test.
Background technique
Modern medicine study proves that human diseases is all direct or indirect related with gene.Human genome contains someone
Class is sick, it is old, dead most hereditary information, decoding it will bring for the exploration of the prevention of disease, diagnosis, drug therapy
One revolution.Current gene sequencing technology greatly improves understanding or even full base for the hereditation of these diseases
Thus breakthrough and the universal hereditary variation that can detect individual carrying on a large scale because of group sequencing technologies simultaneously show that individual is suffered from
Disease risks.It is that recent domestic research promotes national physique and prevention and treatment based on the health guidance under the assessment of disease risk
The important tool of disease, especially guidance in terms of predictive disease is dangerous, selection treatment disease have important meaning
Justice.
Currently, domestic assessment system has a single function, and it cannot automatically utilize and integrate the research of preclinical medicine
Achievement, prevention and risk assessment for disease；The drug applicability and personal characteristics of individual can not be assessed.Thus, exploitation
A mature, full-featured assessment system can help people to understand itself genetic characteristics out, and targetedly right
The disease of high-risk makes personalized prevention scheme, medication guide scheme, may also help in the individual character spy that people excavate itself
Sign；Aid decision can also be provided for physical examination mechanism, insurance business, early education mechanism, hospital and the hygiene and health department of government
Foundation.
Summary of the invention
For overcome the deficiencies in the prior art, the purpose of the present invention is to provide the assessment system based on genetic test,
The disease risk of individual can be assessed, additionally it is possible to according to the Rational drug use of the result of genetic test guidance individual, assessment
The personal characteristics of individual.
The purpose of the present invention adopts the following technical scheme that realization:
Assessment system based on genetic test characterized by comprising
Data acquisition module: genome sequence can be obtained by the high-flux sequence data of detection sample to be assessed；
Identification module: it is more to obtain mononucleotide for the mononucleotide polymorphism site on the genome sequence for identification
The genotype in state property site；
Allele matching module: the genotype of the mononucleotide polymorphism site is corresponding with phenotype each in database
Genotype compare, obtain genotype comparing result；
Evaluation module: it is assessed according to the genotype comparing result, obtains assessment result；The evaluation module includes
Disease risks evaluation module, the disease risks evaluation module are used to assess the risk of disease；
Report generation module: the assessment result is formed into assessment report.
Further, the disease risks evaluation module assesses the illness wind of disease according to the genotype comparing result
Danger.
Further, the evaluation module further includes drug applicability evaluation module, the drug applicability evaluation module
For assessing the applicability of drug according to the genotype comparing result.
Further, the evaluation module further includes personal characteristics evaluation module, and the personal characteristics evaluation module is used for
Personal characteristics is assessed according to the genotype comparing result.
Further, the data acquisition module can obtain the data of single or multiple users simultaneously；The data
Obtaining between module and the identification module further includes data categorization module, and the data categorization module is for obtaining the data
The genome sequence for multiple users that modulus block obtains separates, to obtain the genome sequence of single user, and will be single
The genome sequence of a user is exported to the identification module.
It further, further include screening module between the assessment and the report generation module, the screening module is defeated
The assessment result for entering the assessment result, and filtering out part is exported to the report generation module.
Further, the data acquisition module can identify external detection data, and the detection data that will acquire turns
Turn to the data format that can be identified.
Further, the report generation module being capable of assessment result described in batch signatures.
Further, the assessment system further includes the module that reports an error, and the module that reports an error is for receiving the mould of the interruption of service
The information of block, and terminate the operation of the assessment system.
Further, the identification module, the allele matching module or the evaluation module interruption of service, will
The information of run-time error is sent to the module that reports an error, and the assessment system terminates operation.
Compared with prior art, the beneficial effects of the present invention are:
1. the present invention by setting evaluation module, and evaluation module further include disease risks evaluation module, drug be applicable in
Property evaluation module and personal characteristics evaluation module, it can be estimated that the risk of disease makes the disease of the high risk of individual
Personalized prevention scheme；The applicability that drug can be assessed, the suitability of medicament selection when instructing individual treatment disease；Also
Personal characteristics can be assessed, individual is instructed to play speciality；So that assessment system function of the invention is more comprehensively.
2. existing assessment system cannot automatically select the genotype of detection, and screening module of the invention, Ke Yixuan
The disease paid special attention to according to user to selecting property, screens assessment result, and the assessment result of the disease of user's concern is screened
Out, personalized customization is realized.
3. the present invention is by setting data categorization module, the genotype point for multiple users that data acquisition module is obtained
It opens, obtains the genotype of single user；Allow assessment system to receive the genotype information of multiple users simultaneously, and by they
It is effectively separately assessed, so that the operation of assessment system is more efficiently, data are analyzed more accurate.
4. the present invention is screened screening module after screening module end of run by the way that report generation module is arranged
Assessment result form examining report in time, facilitate user obtain in time it should be understood that information.
The operation method of assessment system based on genetic test of the invention:
Data acquisition module: the high-flux sequence number of the sample to be detected of one or more assessment system user is obtained
According to obtaining genome sequence, then export obtained genome sequence to data categorization module；
Data categorization module: the genome sequence that data acquisition module is obtained separates, to obtain single user's
Then genome sequence exports the genome sequence of single user to identification module；
Identification module: the mononucleotide polymorphism site on identification genome sequence obtains mononucleotide polymorphism site
Genotype, the genotype of mononucleotide polymorphism site exports and gives allele matching module by identification module end of run；
Allele matching module: by the genotype of mononucleotide polymorphism site base corresponding with phenotype each in database
Because type compares, genotype comparing result is obtained；
Evaluation module: it is assessed according to genotype comparing result, obtains assessment result；
Evaluation module includes disease risks evaluation module, drug applicability evaluation module and personal characteristics evaluation module.Disease
Sick risk evaluation module is used to assess the risk of disease；Disease risks evaluation module is calculated according to genotype comparing result
The Relative risk value of phenotype, then according to the Relative risk value of phenotype, match model and geometric mean assessment disease it is opposite
Risk and absolute risk.Drug applicability evaluation module is used to assess the applicability of drug according to genotype comparing result.Individual character
Feature evaluation module is used to assess personal characteristics according to genotype comparing result.
Screening module: by assessment result screening according to user, and by the assessment result filtered out export to
Report generation module.
Report generation module: the assessment result filtered out is formed into assessment report.
Assessment system based on genetic test further includes the module that reports an error, and the module that reports an error is used to receive the module of the interruption of service
Information, and terminate the operation of assessment system.Identification module, allele matching module, disease risks evaluation module, drug are suitable
When with property evaluation module or the personal characteristics evaluation module interruption of service, run-time error information is sent to the mould that reports an error by corresponding module
Block, assessment system terminate operation.
Detailed description of the invention
Fig. 1 is the flow chart of the assessment system based on genetic test.
Specific embodiment
In the following, being described further in conjunction with specific embodiment to the present invention, it should be noted that is do not collided
Under the premise of, new embodiment can be formed between various embodiments described below or between each technical characteristic in any combination.It is adopted
Equipment and raw material etc. are commercially available or commonly used in the art.Method in following embodiments, such as nothing are especially said
It is bright, it is the conventional method of this field.
As shown in Figure 1, the assessment system based on genetic test, comprising:
Data acquisition module: genome sequence can be obtained by the high-flux sequence data of detection sample to be assessed；
Identification module: the mononucleotide polymorphism site on genome sequence for identification obtains single nucleotide polymorphism
The genotype in site；
Allele matching module: by the genotype of mononucleotide polymorphism site base corresponding with phenotype each in database
Because type compares, genotype comparing result is obtained；
Database is voluntarily established, and excel table is arranged according to use demand, and online academic database search is arrived
It is put into table corresponding position by specific format after documents and materials filtering, then writes code with python language, is needed according to using
Seek calling data form.Wherein, the influence factor of filtering are as follows: factors affecting periodicals, research object crowd quantity, research approach are set
The ethnic group of meter, research object.
In allele matching module, the update of database is one of them important project.It passes through selenium+
Python crawler technology constantly downloads new gene pool data for external a large amount of open source gene database.Later period passes through sieve
Data are selected, obtain the mapping relations of disease and gene loci, abundant data library content.
In allele matching module, go identification more using the advantage that multi-threading plays multi-core CPU on python
The gene loci of a data can match more parts of data so as to reach simultaneously in 3S, and every part of data at least have 1,000,000
A site information can correspond.
Evaluation module: it is assessed according to genotype comparing result, obtains assessment result；Evaluation module includes disease risks
Evaluation module, disease risks evaluation module are used to assess the risk of disease；
Assessment in evaluation module to genotype is the method with deep learning, uses the deep learning frame of python
Pytorch module defines the process of training neural network, and the random data that generate are trained, and obtains corresponding model, then again
It is trained by the data of importing, is compared with training before, measurement error obtains loss function, is subject to model
Amendment updates weight, obtains the assessment result of optimization.
Report generation module: assessment result is formed into assessment report.
Report generation module is the advantage with java, has open source third party library abundant, we use docx4j here
Library can preferably match with word document, content is inserted into word document, additionally it is possible to according to the content of evaluation module,
Corresponding picture and gene loci picture are generated, the content that people's more intuitive understanding can be allowed to be shown.
As further embodiment, disease risks evaluation module assesses the illness of disease according to genotype comparing result
Risk.The algorithm that disease risks evaluation module assesses the risk of disease can use the algorithm of the prior art, can also adopt
It is calculated with the present processes, specific calculation method is as follows:
Go out the probability that individual suffers from certain disease according to the genotype assessment of mononucleotide polymorphism site, that is, individual is suffered from
The absolute risk (AR) of disease:
AR=crowd × risk (R)
Risk (R): it is calculated using OR value according to gene action model.
Wherein, Pr (c/A) is the percentage that risk genotype number is carried in detection group；
Pr (nc/A) is the percentage that non-risk genotype number is carried in detection group；
Pr (c/B) is the percentage that risk genotype number is carried in control group；
Pr (nc/B) is the percentage that non-risk genotype number is carried in control group；
Control group sample randomly selects in general population.R value can be estimated with OR value.In addition, gene action model is not
It is the content protected of the present invention, no longer Ao Shu herein.
As further embodiment, evaluation module further includes drug applicability evaluation module, the assessment of drug applicability
Module is used to assess the applicability of drug according to genotype comparing result.
The project of drug applicability evaluation module detection has: function and effect, side effect, toxic effect, sensibility, metabolism speed
Rate, absorbability, conversion capability, distribution and elimination ability.These projects all with the gene of mononucleotide polymorphism site
Type is related, therefore, detects the genotype of mononucleotide polymorphism site, can detecte above-mentioned project, according to genotype assessment
The applicability of drug belongs to the prior art.
As further embodiment, evaluation module further includes personal characteristics evaluation module, personal characteristics evaluation module
For assessing personal characteristics according to genotype comparing result.
The personal characteristics of people is all related to the genotype of mononucleotide polymorphism site, therefore, detects mononucleotide polymorphic
The genotype in property site, can detecte the personal characteristics of people, belongs to the prior art according to genotype assessment personal characteristics.
As further embodiment, data acquisition module can obtain the data of single or multiple users simultaneously；
It further include data categorization module between data acquisition module and identification module, data categorization module is for obtaining data acquisition module
To the genome sequence of multiple users separate, to obtain the genome sequence of single user, and by single user's
Genome sequence is exported to identification module.
It further include screening module between assessment and report generation module, screening module is defeated as further embodiment
The assessment result for entering assessment result, and filtering out part, which exports, gives report generation module.
It is suitable that disease risks evaluation module, drug can be freely combined according to the needs of assessment system user in screening module
With property evaluation module and personal characteristics evaluation module, to filter out the module that assessment system user needs to detect；And disease
Each module in sick risk evaluation module, drug applicability evaluation module and personal characteristics evaluation module has also separately included very
The estimation items in each module can be freely combined according to the needs of assessment system user in more evaluation items, screening module
Mesh, to filter out the project in the module that assessment system user needs to detect.
As further embodiment, data acquisition module can identify external detection data, and the inspection that will acquire
Measured data is converted into the data format that can be identified.
Data acquisition module can identify the initial data that other detection systems detect, and be translated into and can identify
Data format, obtain genome sequence, then carry out the subsequent step of this assessment system again.
As further embodiment, report generation module being capable of batch signatures assessment result.
Report generation module can batch signatures assessment result with high throughput, speed is fast, high-efficient, Manual operation link
It is few, manual operation bring mistake is reduced to the maximum extent.A detection report can be generated within report generation module about 1 minute
It accuses.
As further embodiment, assessment system further includes the module that reports an error, and the module that reports an error is for receiving the interruption of service
Module information, and terminate the operation of assessment system.
As further embodiment, identification module, allele matching module or the evaluation module interruption of service will
The information of run-time error is sent to the module that reports an error, and assessment system terminates operation.
Embodiment 1:
Assessment system based on genetic test, comprising:
Data acquisition module: the high-flux sequence data of the sample to be detected of multiple assessment system users are obtained, are obtained
Then genome sequence exports obtained genome sequence to data categorization module；
Data categorization module: the genome sequence that data acquisition module is obtained separates, to obtain single user's
Then genome sequence exports the genome sequence of single user to identification module；
After the genome sequence of multiple assessment system users is listed in data categorization module separately, subsequent knowledge is respectively enterd
Other module, allele matching module, evaluation module, screening module and report generation module.
Identification module: it identifies the mononucleotide polymorphism site on the genome sequence of single user, obtains mononucleotide
Then the genotype of mononucleotide polymorphism site is exported and gives allele matching module by the genotype of polymorphic site；
Allele matching module: by the genotype of mononucleotide polymorphism site base corresponding with phenotype each in database
Because type compares, genotype comparing result is obtained；
Evaluation module: it is assessed according to genotype comparing result, obtains assessment result；
Evaluation module includes disease risks evaluation module, drug applicability evaluation module and personal characteristics evaluation module.Disease
Sick risk evaluation module is used to assess the risk of disease；Disease risks evaluation module is calculated according to genotype comparing result
The Relative risk value of phenotype, then according to the Relative risk value of phenotype, match model and geometric mean assessment disease it is opposite
Risk and absolute risk.Drug applicability evaluation module is used to assess the applicability of drug according to genotype comparing result.Individual character
Feature evaluation module is used to assess personal characteristics according to genotype comparing result.
Screening module: by assessment result screening according to each user, and the assessment result filtered out is defeated
Report generation module is given out.
Report generation module: the assessment result that multiple users filter out is respectively formed assessment report.
Embodiment 2:
Assessment system based on genetic test, comprising:
Data acquisition module: the high-flux sequence data of the sample to be detected of multiple assessment system users are obtained, are obtained
Then genome sequence exports obtained genome sequence to data categorization module；
Data categorization module: the genome sequence that data acquisition module is obtained separates, to obtain single user's
Then genome sequence exports the genome sequence of single user to identification module；
After the genome sequence of multiple assessment system users is listed in data categorization module separately, subsequent knowledge is respectively enterd
Other module, allele matching module, evaluation module, screening module and report generation module.
Identification module: it identifies the mononucleotide polymorphism site on the genome sequence of single user, obtains mononucleotide
Then the genotype of mononucleotide polymorphism site is exported and gives allele matching module by the genotype of polymorphic site；
Allele matching module: by the genotype of mononucleotide polymorphism site base corresponding with phenotype each in database
Because type compares, genotype comparing result is obtained；
Evaluation module: it is assessed according to genotype comparing result, obtains assessment result；
Evaluation module includes disease risks evaluation module and drug applicability evaluation module, and disease risks evaluation module is used for
Assess the risk of disease；Disease risks evaluation module according to genotype comparing result calculate phenotype Relative risk value,
Then according to the relative risk and absolute risk of the Relative risk value of phenotype, match model and geometric mean assessment disease.Medicine
Object applicability evaluation module is used to assess the applicability of drug according to genotype comparing result.
Screening module: by assessment result screening according to each user, and the assessment result filtered out is defeated
Report generation module is given out.
Report generation module: the assessment result that multiple users filter out is respectively formed assessment report.
Embodiment 3:
Assessment system based on genetic test, comprising:
Data acquisition module: the high-flux sequence data of the sample to be detected of multiple assessment system users are obtained, are obtained
Then genome sequence exports obtained genome sequence to data categorization module；
Data categorization module: the genome sequence that data acquisition module is obtained separates, to obtain single user's
Then genome sequence exports the genome sequence of single user to identification module；
After the genome sequence of multiple assessment system users is listed in data categorization module separately, subsequent knowledge is respectively enterd
Other module, allele matching module, evaluation module, screening module and report generation module.
Identification module: it identifies the mononucleotide polymorphism site on the genome sequence of single user, obtains mononucleotide
Then the genotype of mononucleotide polymorphism site is exported and gives allele matching module by the genotype of polymorphic site；
Allele matching module: by the genotype of mononucleotide polymorphism site base corresponding with phenotype each in database
Because type compares, genotype comparing result is obtained；
Evaluation module: it is assessed according to genotype comparing result, obtains assessment result；
Evaluation module includes disease risks evaluation module and personal characteristics evaluation module.Disease risks evaluation module is for commenting
Estimate the risk of disease；Disease risks evaluation module according to genotype comparing result calculate phenotype Relative risk value, so
Afterwards according to the relative risk and absolute risk of the Relative risk value of phenotype, match model and geometric mean assessment disease.Individual character
Feature evaluation module is used to assess personal characteristics according to genotype comparing result.
Screening module: by assessment result screening according to each user, and the assessment result filtered out is defeated
Report generation module is given out.
Report generation module: the assessment result that multiple users filter out is respectively formed assessment report.
Embodiment 4:
Assessment system based on genetic test, comprising:
Data acquisition module: the high-flux sequence data of the sample to be detected of single assessment system user are obtained, are obtained
Then genome sequence exports obtained genome sequence to data categorization module；
Data categorization module: the genome sequence that data acquisition module is obtained is exported to identification module；
Identification module: it identifies the mononucleotide polymorphism site on the genome sequence of single user, obtains mononucleotide
Then the genotype of mononucleotide polymorphism site is exported and gives allele matching module by the genotype of polymorphic site；
Allele matching module: by the genotype of mononucleotide polymorphism site base corresponding with phenotype each in database
Because type compares, genotype comparing result is obtained；
Evaluation module: it is assessed according to genotype comparing result, obtains assessment result；
Evaluation module includes disease risks evaluation module.Disease risks evaluation module is used to assess the risk of disease；
Disease risks evaluation module according to genotype comparing result calculate phenotype Relative risk value, then according to the opposite wind of phenotype
Nearly it is worth, the relative risk and absolute risk of match model and geometric mean assessment disease.
Screening module: by assessment result screening according to user, and by the assessment result filtered out export to
Report generation module.
Report generation module: the assessment result filtered out is formed into assessment report.
Embodiment 5:
Assessment system based on genetic test, comprising:
Data acquisition module: identifying the initial data that single assessment system user detects in other detection systems,
And it is translated into the data format that can be identified, genome sequence is obtained, then exports obtained genome sequence to number
According to categorization module；
Data categorization module: the genome sequence that data acquisition module is obtained is exported to identification module；
Identification module: it identifies the mononucleotide polymorphism site on the genome sequence of single user, obtains mononucleotide
Then the genotype of mononucleotide polymorphism site is exported and gives allele matching module by the genotype of polymorphic site；
Allele matching module: by the genotype of mononucleotide polymorphism site base corresponding with phenotype each in database
Because type compares, genotype comparing result is obtained；
Evaluation module: it is assessed according to genotype comparing result, obtains assessment result；
Evaluation module includes drug applicability evaluation module, and drug applicability evaluation module is used to be compared according to genotype and tie
The applicability of fruit assessment drug.
Screening module: by assessment result screening according to user, and by the assessment result filtered out export to
Report generation module.
Report generation module: the assessment result filtered out is formed into assessment report.
The above embodiment is only the preferred embodiment of the present invention, and the scope of protection of the present invention is not limited thereto,
The variation and replacement for any unsubstantiality that those skilled in the art is done on the basis of the present invention belong to institute of the present invention
Claimed range.
Claims (10)
1. the assessment system based on genetic test characterized by comprising
Data acquisition module: genome sequence can be obtained by the high-flux sequence data of detection sample to be assessed；
Identification module: the mononucleotide polymorphism site on the genome sequence for identification obtains single nucleotide polymorphism
The genotype in site；
Allele matching module: by the genotype of mononucleotide polymorphism site base corresponding with phenotype each in database
Because type compares, genotype comparing result is obtained；
Evaluation module: it is assessed according to the genotype comparing result, obtains assessment result；The evaluation module includes disease
Risk evaluation module, the disease risks evaluation module are used to assess the risk of disease；
Report generation module: the assessment result is formed into assessment report.
2. the assessment system according to claim 1 based on genetic test, which is characterized in that the disease risks assess mould
Root tuber assesses the risk of disease according to the genotype comparing result.
3. the assessment system according to claim 1 based on genetic test, which is characterized in that the evaluation module further includes
Drug applicability evaluation module, the drug applicability evaluation module are used to assess drug according to the genotype comparing result
Applicability.
4. the assessment system according to claim 1 based on genetic test, which is characterized in that the evaluation module further includes
Personal characteristics evaluation module, the personal characteristics evaluation module are used to assess personal characteristics according to the genotype comparing result.
5. the assessment system according to claim 1 based on genetic test, which is characterized in that the data acquisition module energy
Data that are enough while obtaining single or multiple users；It further include data between the data acquisition module and the identification module
Categorization module, the genome sequence separation for multiple users that the data categorization module is used to obtain the data acquisition module
It opens, to obtain the genome sequence of single user, and the genome sequence of single user is exported to the identification module.
6. the assessment system according to claim 1 based on genetic test, which is characterized in that the assessment and the report
It further include screening module between generation module, the screening module inputs the assessment result, and filters out the assessment knot of part
Fruit exports to the report generation module.
7. the assessment system according to claim 1 based on genetic test, which is characterized in that the data acquisition module energy
The detection data that enough identifies external detection data, and will acquire is converted into the data format that can be identified.
8. the assessment system according to claim 1 based on genetic test, which is characterized in that the report generation module energy
Assessment result described in enough batch signatures.
9. the assessment system according to claim 1-8 based on genetic test, which is characterized in that the assessment system
System further includes the module that reports an error, the information of module of the module that reports an error for receiving the interruption of service, and terminates the assessment system
The operation of system.
10. the assessment system according to claim 9 based on genetic test, which is characterized in that the identification module, described
The information of run-time error is sent to the module that reports an error by allele matching module or the evaluation module interruption of service,
The assessment system terminates operation.
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Cited By (6)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN111755076A (en) * | 2020-07-01 | 2020-10-09 | 北京小白世纪网络科技有限公司 | Disease prediction method and system based on spatial separability and using gene detection |
| CN112226505A (en) * | 2020-10-27 | 2021-01-15 | 广东瑞昊生物技术有限公司 | Respiratory system disease gene SNP locus typing optimization method |
| CN112259161A (en) * | 2020-10-21 | 2021-01-22 | 平安科技（深圳）有限公司 | Disease risk assessment system, method, device and storage medium |
| CN112768005A (en) * | 2020-12-23 | 2021-05-07 | 阔然生物医药科技(上海)有限公司 | Automatic report generation method for tumor gene detection |
| WO2021164270A1 (en) * | 2020-02-20 | 2021-08-26 | 苏州金唯智生物科技有限公司 | Data analysis method, apparatus and device, and storage medium |
| CN114300044A (en) * | 2021-12-31 | 2022-04-08 | 深圳华大医学检验实验室 | Gene evaluation method, gene evaluation device, storage medium, and computer device |
Citations (3)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN107229841A (en) * | 2017-05-24 | 2017-10-03 | 重庆金域医学检验所有限公司 | A kind of genetic mutation appraisal procedure and system |
| CN107345248A (en) * | 2017-06-26 | 2017-11-14 | 思畅信息科技（上海）有限公司 | Gene and site methods of risk assessment and its system based on big data |
| CN109872792A (en) * | 2019-04-16 | 2019-06-11 | 北京中佰耀因医药科技有限公司 | It is a kind of for instructing the genetic test intelligent reporting system of accurate medication |
-
2019
- 2019-07-02 CN CN201910588916.6A patent/CN110246581A/en active Pending
Patent Citations (3)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN107229841A (en) * | 2017-05-24 | 2017-10-03 | 重庆金域医学检验所有限公司 | A kind of genetic mutation appraisal procedure and system |
| CN107345248A (en) * | 2017-06-26 | 2017-11-14 | 思畅信息科技（上海）有限公司 | Gene and site methods of risk assessment and its system based on big data |
| CN109872792A (en) * | 2019-04-16 | 2019-06-11 | 北京中佰耀因医药科技有限公司 | It is a kind of for instructing the genetic test intelligent reporting system of accurate medication |
Cited By (7)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2021164270A1 (en) * | 2020-02-20 | 2021-08-26 | 苏州金唯智生物科技有限公司 | Data analysis method, apparatus and device, and storage medium |
| CN111755076A (en) * | 2020-07-01 | 2020-10-09 | 北京小白世纪网络科技有限公司 | Disease prediction method and system based on spatial separability and using gene detection |
| CN112259161A (en) * | 2020-10-21 | 2021-01-22 | 平安科技（深圳）有限公司 | Disease risk assessment system, method, device and storage medium |
| CN112259161B (en) * | 2020-10-21 | 2024-03-01 | 平安科技（深圳）有限公司 | Disease risk assessment system, method, device and storage medium |
| CN112226505A (en) * | 2020-10-27 | 2021-01-15 | 广东瑞昊生物技术有限公司 | Respiratory system disease gene SNP locus typing optimization method |
| CN112768005A (en) * | 2020-12-23 | 2021-05-07 | 阔然生物医药科技(上海)有限公司 | Automatic report generation method for tumor gene detection |
| CN114300044A (en) * | 2021-12-31 | 2022-04-08 | 深圳华大医学检验实验室 | Gene evaluation method, gene evaluation device, storage medium, and computer device |
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