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
View PDF2 Cites 64 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

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

Method used

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
View more

Image

Smart Image Click on the blue labels to locate them in the text.
Viewing Examples
Smart Image
  • 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

Examples

Experimental program
Comparison scheme
Effect test

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,...

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to view more

PUM

No PUM Login to view more

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...

Claims

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to view more

Application Information

Patent Timeline
no application Login to view more
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
Who we serve
  • R&D Engineer
  • R&D Manager
  • IP Professional
Why Eureka
  • Industry Leading Data Capabilities
  • Powerful AI technology
  • Patent DNA Extraction
Social media
Try Eureka
PatSnap group products

Browse by: Latest US Patents, China's latest patents, Technical Efficacy Thesaurus, Application Domain, Technology Topic.

© 2024 PatSnap. All rights reserved.Legal|Privacy policy|Modern Slavery Act Transparency Statement|Sitemap