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Method and system for detecting polymorphism locus of genome target region

A target region and genome technology, which is applied in the field of detecting polymorphism sites in target regions of the genome, and can solve the problems of imperfect analysis methods and tools.

Active Publication Date: 2010-12-15
BGI TECH SOLUTIONS
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Problems solved by technology

[0009] A technical problem to be solved by the present invention is to provide a method and system for detecting polymorphic sites in the target region of the genome, by performing depth, coverage analysis, capture efficiency analysis, gender testing, and consistent heterozygosity of SNP sites on experimental samples The sex test solves the problem of imperfect bioinformatics analysis methods and tools for exon regions of the genome, and greatly improves the accuracy and reliability of exon data analysis

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  • Method and system for detecting polymorphism locus of genome target region
  • Method and system for detecting polymorphism locus of genome target region
  • Method and system for detecting polymorphism locus of genome target region

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Embodiment Construction

[0033] The present invention will be described and illustrated more fully below with exemplary embodiments of the present invention with reference to the accompanying drawings.

[0034] figure 1 A flowchart showing a method for detecting polymorphic sites in a genome target region provided by an embodiment of the present invention.

[0035] Such as figure 1 As shown, the method 100 for detecting polymorphic sites in the genome target region includes step 102, the step of obtaining the exon sequencing result: performing sequencing and purification on the human genome DNA sample to obtain the exon region sequencing result; The region sequencing results are compared with the reference gene sequence to obtain accurate comparison results. In the embodiment of the present invention, the sequencing method can adopt high-throughput sequencing technology, such as the Illumina GA Solexa sequencing technology; Solexa is a new sequencing method based on the sequencing-by-synthesis (SBS,...

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Abstract

The invention discloses a method and a system for detecting a polymorphism locus of a genome target region. The method comprises the steps of: obtaining an exon sequencing result, removing redundancy and sequencing, carrying out statistic analysis I, detecting an SNP (Single Nucleotide Polymorphism) locus, filtering the SNP locus, carrying out statistic analysis II and noting the SNP. The SNP analysis can be carried out by sequencing a genome specific region; and the invention has the advantages of high detection accuracy of SNP result, high speed and low cost, and can realize the automation in the whole process, i.e. the high-quality SNP locus is automatically generated by using original sequencing data as a data source, and the SNP locus can be noted and classified.

Description

technical field [0001] The invention relates to the field of biotechnology, in particular to a method and system for detecting polymorphic sites in genome target regions. Background technique [0002] With the successful completion of the Human Genome Project and the International Hapmap Project, biologists have located a large number of genome candidate regions associated with human diseases through genetic linkage or association analysis. However, identifying the causative genes or mutations in these regions requires These regions were resequenced. [0003] If the existing whole-genome resequencing analysis technology is used, the cost is high; and for the research on candidate regions and other parts, or the targeted guidance for individual medical treatment, the results of whole-genome resequencing analysis contain a large number of Redundant information is not conducive to efficient and accurate research results. [0004] In order to improve the efficiency of obtainin...

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Application Information

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IPC IPC(8): C12Q1/68G06F19/00G16B20/20
CPCG06F19/18G16B20/00G16B20/20
Inventor 李英睿余昶罗锐邦张帆
Owner BGI TECH SOLUTIONS
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