Implementation method for HGVS (Human Geome Variation Society) name generation and analysis system of human gene mutation

Abstract

The invention discloses an algorithm for the automatic generation module of the HGVS (Human Geome Variation Society) name of gene mutation. The algorithm comprises the following elements: 1) describing a mutation site by a ''gene(R / M)Sz / c'' format, wherein the meaning of the gene(R / M)Sz / c is a gene name, one segment of sequence after a (mutation site reference sequence / mutation site mutation sequence) mutation site and whether the mutation site is a homozygotic type or a hybrid type, and the three parts are separated by a space so as to describe mutation discovered by sequencing; 2) the format is input into a mutation analysis system, a gene information database, a gene inheritance pattern way database, an HGMD database and the like are called through an HGVS calculation program for calculation; and 3) the HGVS name of the gene mutation and relevant information based on the HGVS information are obtained. Through tests, a human gene mutation system based on the algorithm can analyze of mutation of more than 6000 human genes so as to meet the analysis requirements of gene mutation including common genetic diseases, cancers and the like.

Description

technical field [0001] The invention belongs to the field of biological information, relates to the analysis of sequencing data after gene sequencing, and is a technology for calculating the HGVS name of gene mutation. Background technique [0002] Genetic variation was first discovered by humans in 1949. A distinction is made between mutation and polymorphism according to whether the variant is pathogenic. A mutation generally refers to a pathogenic change in a specific DNA sequence compared to a reference sequence. A polymorphic site, or SNP, refers to a non-pathogenic sequence change. Generally, a sequence change with a frequency greater than 1% in the population is defined as a SNP. With the accumulation of genetic variants, people have gradually realized that confirming the pathogenicity of variants is not an easy task. Condit, Marshall, and Cotton [1-3] et al. study the origin, evolution, and meaning of the words "mutation" and "polymorphism". Since there is no str...

AI Technical Summary

Problems solved by technology

It is feasible to obtain the HGVS name according to the reference sequence and manually, but it is time-consuming and error-prone; while using the "Description Extractor" tool on the https: / / mutalyzer.nl website to automatically generate the HGVS name, there is a problem that it cannot distinguish between introns and exons. major defect in the exon

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