Tumor mutation site screening and mutual exclusion gene mining system

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

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

Method used

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

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Embodiment Construction

[0030] It should be noted that the embodiments of the present invention and the features in the embodiments can be combined with each other if there is no conflict.

[0031] Hereinafter, the present invention will be described in detail with reference to the drawings and in conjunction with the embodiments.

[0032] The principle of the method of the present invention is as follows:

[0033] Gene mutation is a prerequisite for tumorigenesis. The identification of mutated genes (gene loci) through exome sequencing data is one of the important methods of biomedical research. The genes that have a greater impact on the physiological state of cells are those genes that have a certain impact on the proteins translated by genes. Therefore, in order to identify tumor-related mutant genes (gene loci), we first perform protein function filtering on the annotation files generated by the commonly used annotation software ANNOVAR .

[0034] Next, because the second-generation sequencing technolo...

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Abstract

The invention provides a tumor mutation site screening and mutual exclusion gene mining system. The system comprises a filtering module which is used for filtering a vcf file and an ANNOVAR software output file in an exome processing process; an analysis module which is used for carrying out description analysis on different experiment group mutation sites; a gathering module which is used for gathering mutation genes of each sample and establishing a mutation gene matrix according to an experiment group mutation gene list; and a mining module which is used for carrying out Fisher precise checking based mutual exclusion and co-mutation analysis on the generated mutation gene matrix, thereby determining mutual exclusion and co-mutation genes. According to system, the mutation sites are filtered according to basic parameters such as annotation information of the mutation sites, the sequencing read number and site sequencing depth; and description analysis of different experiment group mutation modes and mining of co-mutation and mutual exclusion gene sets are carried out on the obtained mutation sites.

Description

Technical field [0001] The invention belongs to the field of genetic information data processing, and particularly relates to a system 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, among which genetic factors involve a large number of gene functional abnormalities (mutations, methylation changes). Gene mutations are considered to be the most important driving factor for tumor occurrence and development. Recently, some research projects using second-generation sequencing as the main method have successfully revealed a large number of potential tumor driver genes in a variety of tumor types. Therefore, effective analysis of the second-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 a global description o...

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G06F19/24
CPCG16B40/00
Inventor 薛成海李连硕刘婷婷
Owner WANKANGYUAN TIANJIN GENE TECH CO LTD
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