Method for detecting gene mutation detection results with relatively high credibility

A technology for test results and reliability, applied in genomics, bioinformatics, informatics, etc., can solve the problems of high impact development, detection rate and false positives

Inactive Publication Date: 2018-07-06
杭州米天基因科技有限公司 +1
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Problems solved by technology

However, after years of practice, we found that each scoring system has many deficiencies, resulting in high mutation detection rate and false positives, which greatly affects the development of subsequent experiments

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  • Method for detecting gene mutation detection results with relatively high credibility
  • Method for detecting gene mutation detection results with relatively high credibility
  • Method for detecting gene mutation detection results with relatively high credibility

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Embodiment Construction

[0037] In order to illustrate the present invention more clearly, the present invention will be further described below in conjunction with preferred embodiments and accompanying drawings. Similar parts in the figures are denoted by the same reference numerals. Those skilled in the art should understand that the content specifically described below is illustrative rather than restrictive, and should not limit the protection scope of the present invention.

[0038] The invention discloses a method for optimizing and combining gene site mutation data files generated by two kinds of software to generate reliable gene mutation detection data files. Concrete scheme of the present invention is as follows:

[0039] First, use a variety of gene mutation analysis software to preprocess the raw data of the gene to be analyzed to generate gene sample data, specifically:

[0040] Compare the original data of the gene to be analyzed with the standard genome, determine the position of the...

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Abstract

The invention discloses a method for generating gene mutation detection results with relatively high credibility by utilizing existing gene mutation detection analysis results. The method comprises the following steps of: carrying out statistical analysis on gene types recorded in variation points in each file and distribution condition of quality information by utilizing VCF-format point mutationdata files generated by gene mutation analysis software, and removing the points with low gene type quality; and synthesizing the mutation point data files generated by two software, extracting points with same variation at the same position so as to generate gene mutation data files with relatively high credibility when being compared with existing gene mutation detection analysis results, and using the gene mutation data files for the subsequent analysis process.

Description

technical field [0001] The invention relates to the field of biological gene mutation analysis, in particular to a method for generating gene mutation detection results with high reliability by using existing gene mutation detection and analysis results. Background technique [0002] Whole genome sequencing is the process of using a new generation of high-throughput gene sequencing technology to sequence a person's whole genome at a high rate, and then compare the results with the standard human genome to obtain a complete personal whole genome sequence. In recent years, through large-scale epidemiological surveys, scientists have discovered that a large number of gene variations are closely related to human diseases. [0003] With the rapid development of high-throughput sequencing technology, the use of the latest large-scale gene sequencers and the sharp drop in cost, whole-gene testing has been able to detect most of the genetic information in an individual's genome. Bu...

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G06F19/18
CPCG16B20/00
Inventor 杨兴礼付永全刘小军尹潼陶涛
Owner 杭州米天基因科技有限公司
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