Tumor mutation analysis method and system, terminal and readable storage medium

Abstract

A tumor mutation analysis method based on next-generation sequencing is characterized by comprising filtering a sample genome sequencing sequence; comparing the filtered sample genome sequencing sequence with a reference genome sequence; controlling the tumor sample comparison quality, wherein the type of the tumor sample is one of a tumor single sample or a tumor / control paired sample; performingsingle nucleic acid variation detection and insertion deletion marker detection according to the type of the tumor sample; and performing fusion detection according to the type of the tumor sample. The present invention provides an automated process for tumor variation biological information analysis, which can quickly and automatically detect variation markers such as SNV (single nucleic acid variation), indel (insertion deletion marker), fusion, CNV (gene copy number variation), TMB (tumor mutation load) and MSI, can obtain more information about the precise target of tumor treatment, and provides more help for patients to select targeted drugs with potential benefits.

Description

technical field

[0001] The invention belongs to the technical field of tumor gene detection, and in particular relates to a biological information analysis method, system, terminal and computer-readable storage medium for detecting mutations in tumor somatic cells based on next-generation sequencing. Background technique

[0002] my country is a country with a high incidence of cancer, and tumor gene detection is of great significance for the prevention and treatment of cancer in my country. With the rapid development of next-generation sequencing (NGS), genetic testing has increasingly guided clinical tumor treatment practices, and using molecular testing results to guide clinical tumor treatment can bring more benefits. Tumor-related mutations include SNV, indel, CNV, fusion, etc. At present, some drugs such as targeted drugs can specifically target certain tumor gene mutations to achieve precise killing effects. Different tumor patients have different tumor driver gene mu...

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