Gene mutation evaluation method and system

A gene variation and risk assessment technology, applied in the field of bioinformatics, can solve the problems of complex application assessment system and time-consuming, etc., and achieve the effects of strong applicability, time saving and easy operation

Active Publication Date: 2017-10-03
重庆金域医学检验所有限公司
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Problems solved by technology

However, the application evaluation system of this guideline is very complicated, which makes manual analysis of the results of

Method used

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  • Gene mutation evaluation method and system
  • Gene mutation evaluation method and system

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Experimental program
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Embodiment 1

[0121] A method for assessing gene variation, specifically comprising the following steps:

[0122] (1) Obtain high-throughput sequencing data of samples to be evaluated;

[0123] (2) Use BWA software to compare the high-throughput sequencing data of the sample to be evaluated with the reference genome, use GATK software to find the difference between the sequencing data and the reference genome, identify mutation sites, and use annovar software to analyze the mutation sites Perform functional annotation to obtain an easy-to-understand list of mutation site information (such as image 3 shown); according to the mutation site information, judge whether the mutation site is LOF, and obtain the first judgment result;

[0124] (3) According to the information in the disease database HGMD and ClinVar, judge whether the mutation site is included in the disease database, and obtain a second judgment result;

[0125] (4) According to the information in the population genetic databas...

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Abstract

The invention discloses a gene mutation evaluation method. The gene mutation evaluation method comprises the following steps of obtaining high-throughput sequencing data of a sample to be evaluated; comparing the high-throughput sequencing data with a reference sequence, obtaining a mutant site in the high-throughput sequencing data, judging whether the mutant site is an LOF or not, and obtaining a first judgment result; judging whether the mutant site is recorded in the disease database or not according to information in the disease database, and obtaining a second judgment result; judging whether the mutant site is recorded in a population genetics database or not according to information in the population genetics database, and obtaining a third judgment result; obtaining a mutation frequency of the mutant site when the third judgment result is that the mutant site is recorded in the population genetics database; obtaining a pathogenic risk evaluation result according to the first judgment result, the second judgment result, the third judgment result and the mutation frequency. The invention further discloses a gene mutation evaluation system. The gene mutation evaluation method and system have the advantages of being easy to operate, efficient and high in applicability and saving time.

Description

technical field [0001] The invention belongs to the field of bioinformatics, and in particular relates to a gene variation evaluation method and system. Background technique [0002] In clinical high-throughput sequencing laboratories, the results of sequencing each sample are thousands or even tens of thousands of genetic variation sites. For these loci, there is a widely used and widely accepted guideline - "Guidelines for Clinical Interpretation of Gene Variations of the American ACMG Association (2015)". However, the application evaluation system of this guideline is very complicated, which makes manual analysis of the results of a patient consume a lot of time. At present, there is still a lack of an efficient method and system for evaluating variant sites. Contents of the invention [0003] On the one hand, the object of the present invention is to provide a gene variation assessment method to overcome the shortcomings of the prior art, and the gene variation asses...

Claims

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Application Information

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IPC IPC(8): G06F19/22
CPCG16B30/00
Inventor 刘晶星赵薇薇孙明明喻长顺胡昌明刘圣艳
Owner 重庆金域医学检验所有限公司
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