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Method and device for analyzing somatic variation

A somatic cell and mutation technology, applied in the field of bioinformatics, can solve problems such as the inability to interpret somatic cell variation, achieve strong technical support, improve efficiency and accuracy

Active Publication Date: 2022-08-09
深圳裕康医学检验实验室
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  • Abstract
  • Description
  • Claims
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Problems solved by technology

However, the existing variant analysis tools cannot accurately interpret the somatic variants that have not been publicly included in the database and have not been reported

Method used

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  • Method and device for analyzing somatic variation
  • Method and device for analyzing somatic variation
  • Method and device for analyzing somatic variation

Examples

Experimental program
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Embodiment 1

[0126] This embodiment provides a method for constructing an automated grading tool for somatic mutation, such as figure 1 Shown is the flow chart of the construction and query of the automatic classification method for somatic mutation.

[0127] 1. Data query collection:

[0128] Comprehensive search and download of internationally recognized tumor mutation knowledge databases (such as Oncokb, CKb, CIVIC and other 6 tumor mutation knowledge databases), tumor mutation databases (COSMIC, TCGA and other three databases) and common population databases (gnomAD, ExAC, 1000genomes) , obtain relevant data from it, and prepare for subsequent target mutation information query.

[0129] Specifically, it includes three types of databases. The first type is a recognized tumor mutation knowledge database, such as OncokB, Ckb, etc., from which the omics attributes and mutation function annotations of gene mutations or their corresponding clinical significance guidance are extracted; the s...

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Abstract

The invention relates to a method and device for analyzing somatic variation, and the method comprises the following steps: a variation belonging gene analysis step: determining a target variation belonging gene type and gene classification, and outputting related information; and a variation biological significance and / or carcinogenicity prediction step: performing comprehensive analysis according to the information of the target variation in the database, and outputting biological significance and / or carcinogenicity information. According to the method, somatic cell variation interpretation workers can conveniently and quickly retrieve, query and check related information of the target variation, the biological significance and / or carcinogenicity of the target variation can be quickly predicted, the efficiency and accuracy of somatic cell variation interpretation are greatly improved, and the method is suitable for popularization and application. And meanwhile, powerful technical support is provided for automatic interpretation of somatic variation of a subsequent individualized tumor precise medication related report.

Description

technical field [0001] The invention relates to the field of bioinformatics, in particular to a method and device for analyzing somatic cell variation. Background technique [0002] With the completion of the Human Genome Project, the sequencing industry has developed rapidly in recent years, and the cost of sequencing has fallen beyond Moore's Law. China is gradually entering the era of precision medicine. With the advancement of scientific research, scientists have found that tumor is a malignant disease caused by gene mutation, and somatic mutation of tumor has strong guiding significance for clinical management. For example, patients with EGFR mutation in non-small cell lung cancer can be treated with EGFR-targeted drugs. prolong life, etc. Therefore, more and more cancer patients begin to receive genetic testing to assist clinicians in their clinical management decisions. For testing companies, while quickly completing genetic testing and analysis operations, how to s...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G16B20/20G16B20/50G16B50/00G06K9/62
CPCG16B20/20G16B20/50G16B50/00G06F18/241Y02A90/10
Inventor 杨露吴东方杨洁唐启覃陈龙昀陈丽王鹏邓乙晓徐嵘吴旭君许淑兰
Owner 深圳裕康医学检验实验室
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