Tumor mutation site screening and mutual exclusion gene mining method

A technology of mutation sites and mutated genes, which is applied in the field of tumor mutation site screening and mutually exclusive gene mining, and can solve problems such as unintuitive screening conditions.

Inactive Publication Date: 2016-10-12
WANKANGYUAN TIANJIN GENE TECH CO LTD
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Problems solved by technology

[0005] The current methods and software tools for mining tumor mutation sites are often not intuitive enough

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  • Tumor mutation site screening and mutual exclusion gene mining method
  • Tumor mutation site screening and mutual exclusion gene mining method
  • Tumor mutation site screening and mutual exclusion gene mining method

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Embodiment Construction

[0035] It should be noted that, in the case of no conflict, the embodiments of the present invention and the features in the embodiments can be combined with each other.

[0036] The present invention will be described in detail below with reference to the accompanying drawings and examples.

[0037] Method principle of the present invention is as follows:

[0038] The occurrence of gene mutation is a prerequisite for tumorigenesis, and the identification of mutated genes (gene loci) through exome sequencing data is one of the important means of biomedical research. The genes that have a greater impact on the physiological state of the cell are those genes that have a certain impact on the protein translated by the gene. Therefore, in order to identify tumor-related mutation genes (gene loci), we first filter the protein function on the annotation files generated by the commonly used annotation software ANNOVAR .

[0039] Next, due to the possibility of sequencing errors in ...

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Abstract

The invention provides a tumor mutation site screening and mutual exclusion gene mining method, which comprises the following steps: (1) filtering a vcf file and an output file of ANNOVAR annotation software; (2) carrying out the descriptive analysis of different experimental groups of mutation sites; (3) constructing a mutation gene matrix; and (4) carrying out mutual exclusion and joint mutation analysis on the generated mutation gene matrix on the basis of a Fisher exact test to determine a mutual exclusion and joint mutation gene. The mutation site is filtered by the annotation information of the mutation site and basic parameters including a sequencing read number, site sequencing depth and the like, and then, the obtained mutation site is subjected to the descriptive analysis of different experimental groups of mutation modes and the mining of a mutual exclusion and joint mutation gene set.

Description

technical field [0001] The invention belongs to the field of gene information data processing, and in particular relates to a method for screening tumor mutation sites and mining mutually exclusive genes. Background technique [0002] Tumor is a malignant disease induced by both environmental factors and genetic factors, in which the genetic inducement involves abnormal function of a large number of genes (mutation, methylation change). Gene mutation is considered to be the most important driving factor of tumor development. Some recent research projects using next-generation sequencing as the main method have successfully revealed a large number of potential tumor driver genes in various tumor types. Therefore, the effective analysis of next-generation sequencing data is the key to further understanding the pathophysiological characteristics of tumors and realizing early diagnosis and targeted therapy of tumors. [0003] For the global description of gene mutations in tum...

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G06F19/20
CPCG16B25/00
Inventor 薛成海马飞李连硕
Owner WANKANGYUAN TIANJIN GENE TECH CO LTD
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