Gene mutation evaluation method and system

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...

AI Technical Summary

Problems solved by technology

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

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