A system for screening tumor mutation sites and mining mutually exclusive genes

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: 2018-09-18
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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  • A system for screening tumor mutation sites and mining mutually exclusive genes
  • A system for screening tumor mutation sites and mining mutually exclusive genes
  • A system for screening tumor mutation sites and mining mutually exclusive genes

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Embodiment Construction

[0030] 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.

[0031] The present invention will be described in detail below with reference to the accompanying drawings and examples.

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

[0033] 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 .

[0034] 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 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 gene information data processing, and in particular 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, 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 Patents(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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