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

An analysis method and tumor technology, applied in sequence analysis, proteomics, instruments, etc., can solve problems such as numerous parameters, complicated process, and insufficient detection

Active Publication Date: 2019-12-13
深圳百诺精准医疗科技有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, the existing bioinformatics analysis process is complex and has many parameters, which requires experienced professional bioinformatics analysts to complete; and generally only one or several mutation types can be detected, and the detection is not comprehensive enough

Method used

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

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Experimental program
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Effect test

Embodiment 1

[0052] see figure 1 , a method for analyzing tumor mutations based on next-generation sequencing provided in this embodiment, the method comprising:

[0053] Step S10: filtering the sample genome sequencing sequence in the capture interval of the tumor sample, where the type of the tumor sample is one of a tumor single sample or a tumor / control paired sample;

[0054] Specifically, use fastp to automatically identify and remove the linker sequence contained in the sequence; remove the sequence with poor sequencing quality or high N content, and the specific filtering parameters are -q15-u50-n10. Statistical sequence data volume, Q20, Q30 quality, GC content and other related information.

[0055] Step S20: comparing the filtered sample genome sequence with the reference genome sequence;

[0056] Specifically, ① Align the filtered sequence to the reference genome (hg19) by the BWAmem algorithm

[0057] ② For the result of ①, use MarkDuplicates in picard to remove the repetit...

Embodiment 2

[0118] This embodiment provides a tumor mutation analysis system based on next-generation sequencing, see figure 2 , the system includes:

[0119] A filter unit for filtering the sample genome sequencing sequence;

[0120] The tumor sample comparison and quality control unit compares the filtered sample genome sequencing sequence with the reference genome sequence, and compares the quality control to generate a tumor sample. The type of the tumor sample is a tumor single sample or a tumor / control paired sample one;

[0121] Single nucleic acid variation detection and insertion-deletion marker detection unit, which performs single-nucleic acid variation detection and insertion-deletion marker detection according to tumor sample types;

[0122] The tumor mutation burden detection unit judges whether the protein coding interval of the panel capture interval exceeds 1M, and if so, performs tumor mutation burden detection according to the tumor sample type, and otherwise skips t...

Embodiment 3

[0147] This embodiment provides a control terminal and a computer-readable storage medium applied to the terminal. The computer-readable storage medium stores a computer program, and when the computer program is executed by a processor, the system described in the second embodiment above is implemented. function.

[0148] The terminal comprises a memory, a processor, and a computer program stored in the memory and operable on the processor,

[0149] Exemplarily, a computer program can be divided into one or more modules, and one or more modules are stored in a memory and executed by a processor to implement the present invention. One or more modules may be a series of computer program instruction segments capable of accomplishing specific functions, and the instruction segments are used to describe the execution process of the computer program in the user terminal.

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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...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G16B20/20G16B20/50G16B25/10G16B30/10G16B35/20
CPCG16B30/10G16B20/20G16B25/10G16B35/20G16B20/50Y02A90/10
Inventor 谭博文王娅芸何诗阳黄晶盈
Owner 深圳百诺精准医疗科技有限公司
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