Gene mutation pathogenicity detection method, system and medium based on neural network

Abstract

The invention discloses a neural network-based gene mutation pathogenicity detection method, system and medium. The method of the invention includes inputting a gene to be detected to detect a VCF file and an HPO phenotype; detecting a VCF file and an HPO table according to a gene to be detected. type to obtain the eigenvalues ​​of each gene variation; for each gene variation, input the eigenvalues ​​of the gene variation into the trained neural network model to obtain the comprehensive analysis results of the pathogenicity of the gene variation, the neural network model is pre-trained and established The mapping relationship between the eigenvalues ​​of each gene variation and the comprehensive pathogenicity analysis results of each gene variation. The present invention not only overcomes the subjectivity defect of manual analysis, but also can comprehensively consider various factors affecting the pathogenicity of gene mutation, so that the result of comprehensive analysis is more objective and effective, and greatly improves the accuracy of analysis on the pathogenicity of gene mutation , improving the efficiency of gene interpretation.

Description

technical field [0001] The gene detection and gene interpretation technology involved in the present invention specifically relates to a neural network-based gene mutation pathogenicity detection method, system and medium. Background technique [0002] In genetic testing, how to obtain the disease-causing gene mutation from thousands of gene mutations is the key to gene interpretation. The main methods of traditional gene mutation pathogenicity analysis include: (1) By searching professional databases in the biomedical field to see whether the corresponding gene or mutation has a pathogenic database record, these databases include OMIM, Orphanet, HGMD, Clinvar, etc. (2) Determine whether the gene mutation is at risk through protein function prediction, commonly used protein function prediction software such as SIFT, PolyPhen2, MutationTaster, DANN, CADD, etc.; (3) According to the frequency of the gene mutation in the population, determine The risk of gene mutation, commonl...

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