Gene scar for characterizing HRD homologous recombination repair defects and identification method

A technology of homologous recombination and identification method, which is applied in the field of gene scars and identification of HRD homologous recombination repair defects, can solve the problems of poor robustness and large error of gene chip data, and achieves improved robustness and accuracy. , the effect of reducing errors

Active Publication Date: 2020-11-03
张哲 +1
View PDF10 Cites 11 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0003] Therefore, the present invention provides a gene scar and an identification method for characterizing HRD homologous recom

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
  • Gene scar for characterizing HRD homologous recombination repair defects and identification method
  • Gene scar for characterizing HRD homologous recombination repair defects and identification method
  • Gene scar for characterizing HRD homologous recombination repair defects and identification method

Examples

Experimental program
Comparison scheme
Effect test

Embodiment Construction

[0055] In order to make the objects and advantages of the present invention clearer, the present invention will be further described below in conjunction with the examples; it should be understood that the specific examples described here are only for explaining the present invention, and are not intended to limit the present invention.

[0056] Preferred embodiments of the present invention are described below with reference to the accompanying drawings. Those skilled in the art should understand that these embodiments are only used to explain the technical principle of the present invention, and are not intended to limit the protection scope of the present invention.

[0057] It should be noted that, in the description of the present invention, terms such as "upper", "lower", "left", "right", "inner", "outer" and other indicated directions or positional relationships are based on the terms shown in the accompanying drawings. The direction or positional relationship shown is ...

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 relates to a gene scar for characterizing HRD homologous recombination repair defects and an identification method. The identification method comprises the following steps of step 1, performing whole genome sequencing to obtain gene original data; step 2, establishing a chromosome information matrix X (X1, X2, X3... Xn); step 3, performing data quality control; step 4, performing sequence comparison; step 5, deleting repeated reads; step 6, extracting an LRP file through signals copied by two genomes. step 7, comparing the number of high-quality non-reference bases with the number of the high-quality bases to extract a BAF file; step 8, generating fragmented LRP and BAF files for preprocessing to obtain an A allele copy number nA and a B allele copy number nB; step 9, obtaining a telomere allele imbalance TAI score through the nA and the nB; step 10, obtaining a large-scale transition LST score according to the length of each site; step 11, obtaining a heterozygosity deletion LOH score through judgment of the nA and the nB of each SNP site; and step 12, performing statistical calculation to obtain an HRD score and preforming judgment.

Description

technical field [0001] The invention relates to the technical field of biological information, in particular to a gene scar and an identification method for characterizing HRD homologous recombination repair defect. Background technique [0002] At present, the domestic patent "a genomic recombination fingerprint and its identification method for characterizing hHRD homologous recombination defect" focuses on the genomic recombination fingerprint of HRD, and the prediction efficiency for PARP inhibitors is not high. Foreign studies have shown that HRD can cause "genomic scarring" "Phenomenon referred to as genomic scars, including genomic heterozygosity loss, English is Loss of Heterozygosity, referred to as LOH, Telomere allele imbalance English is Telomeric Allelic Imbalance, referred to as TAI, large fragment migration, English is Large-scale state Transition, referred to as LST. Some studies have tested and scored LOH, TAI, LST, etc., and judged the scores to define BRC...

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): G16B30/10C12Q1/6869
CPCC12Q1/6869G16B30/10
Inventor 张哲孟元光杜欣欣
Owner 张哲
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