Genotype conversion method and apparatus, and electronic device

Abstract

The present invention provides a genotype conversion method and apparatus, and an electronic device. The genotype conversion method comprises: establishing a genotype library according to a genetic pharmacology and pharmacogenomics database pharmGKB; obtaining a VCF file and a BAM file corresponding to the to-be-detected gene, wherein both the VCF file and the BAM file carry the locus information;extracting wild type locus information from the BAM file, and extracting mutant locus information from the VCF file; and according to the wild type locus information and the mutant locus information,based on the genotype library, converting the locus information into the genotype by using a genotype converter. According to the technical scheme of the present invention, through the wild type genelocus and the mutant gene locus, based on the genotype library established in advance according to the pharmGKB, the genotype can be accurately located with a fast speed and high accuracy, and the batch processing can be performed, so that the genotype classification and recognition efficiency is effectively improved, and the cost is greatly reduced.

Description

technical field [0001] The invention relates to the technical field of pharmacogenomics, in particular to a genotype conversion method, device and electronic equipment. Background technique [0002] Pharmacogenomics (PGx) is a discipline that studies the different responses of different diseases to drugs caused by gene variation. Its main research content is the impact of genome or gene variation on drug absorption, metabolism, efficacy and adverse reactions in the human body. phenomenon and its mechanism. In July 2016, the Clinical Pharmacology Implementation Consortium (CPIC) published a document in Geneticsin Medicine, dividing pharmacogenomics-related genes into three categories: drug-metabolizing enzymes (CYP family, UGT1A1, DPYD and TPMT), drug transporters (such as SLCO1B1), high-risk genotypes (such as HLA-B). [0003] Pharmacogenomics has become an important tool to guide clinical individualized medication, assess the risk of serious adverse drug reactions, guide ...

AI Technical Summary

Problems solved by technology

[0004] Genetic detection of patients is carried out through first-generation and second-generation sequencing technologies, and the patient's gene locus information is obtained through traditional bioinformatics analysis, such as: rs17886522 A / A, but drug metabolism and transport are not necessarily related to a single gene locus, More are associated with multiple gene loci, so the patient's gene locus mutation information needs to be identified and converted into genotypes in pharmGKB (the pharmacogenetics and pharmacogenomics knowledgebase, pharmacogenetics and pharmacogenomics database), In order to interpret the patient's drug metabolism and achieve precise drug use, the existing technology mainly uses manual methods to classify and identify the patient's genetic testing sites, determine the genotype, and then perform data interpretation, which is time-consuming, high labor cost, and accurate. Unstable rate

Images