Analysis system based on genetic disease virulence genes and application thereof

Abstract

The invention provides an analysis system based on genetic disease virulence genes. The system at least comprises the following modules: a site mutation classification module, which is used for classifying mutation results of endosites of pathogenic genes of genetic diseases, wherein the site without mutation is 0, the site of heterozygous mutation or heterozygous mutation is 1, and the site of homozygous mutation or homogeneous mutation is 2; a mutation value obtaining module used for obtaining a mutation value of the pathogenic gene; a result judgment module used for judging the mutation state and / or pathogenicity of the pathogenic gene according to the mutation value of the pathogenic gene; and a report generation module used for obtaining a matched diagnosis conclusion, disease risk assessment and genetic counseling suggestion according to the mutation state and / or pathogenicity of the pathogenic gene, and generating a gene screening analysis report of the subject. According to themethod, risk assessment can be carried out on a mutation carrier with a normal phenotype, acquired injury factors are avoided, he pathogenic risk of the offspring of the mutation carrier is assessed,and wedding guidance and genetic counseling suggestions are provided.

Description

technical field [0001] The invention relates to the field of gene detection, in particular to an analysis system based on genetic disease-causing genes and its application. Background technique [0002] At present, some intelligent genetic disease diagnosis systems have appeared on the market, but unlike this solution, most of these systems analyze the second-generation gene sequencing data of the subjects, and then find out the disease-related genes from the massive genetic data. Pathogenic mutations, the steps are: 1) Pathogenicity interpretation: Classify the mutations according to the ACMG standard, remove benign or suspected benign mutations, and retain pathogenic mutations, 2) Phenotype correlation judgment: enter the standardized tested According to the phenotype (clinical symptoms) of the patient, information retrieval in the genetic disease phenotype database obtains the corresponding disease and gene list, sorts them according to their correlation with the patient ...

AI Technical Summary

Problems solved by technology

However, there is still a gap in the intelligent diagnosis system for genetic screening data of genetic diseases

[0003] In addition, the current genetic screening for birth defects is generally a single disease screening, rarely a comprehensive screening that includes multiple birth defect diseases, and most of the genetic disease gene reports only present the results of genetic testing, but lack the screening of mutated genes. Detailed explanation, genetic risk assessment of offspring, genetic counseling advice, etc. The professionalism of the report makes it difficult for most patients to interpret. For this reason, the intelligent diagnosis system for genetic screening data of genetic diseases is particularly critical

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