A gene scar characterizing HRD homologous recombination repair defect and its identification method

A technology of homologous recombination and identification method, which is applied in the field of gene scar and identification of HRD homologous recombination repair defect, which can solve the problems of poor robustness and large error of gene chip data, so as to improve robustness and accuracy , the effect of reducing the error

Active Publication Date: 2021-04-23
张哲 +1
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Problems solved by technology

[0003] Therefore, the present invention provides a gene scar and an identification method for characterizing HRD homologous recombination repair defects to overcome the problems of relatively large errors and poor robustness in gene chip data in the prior art

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  • A gene scar characterizing HRD homologous recombination repair defect and its identification method
  • A gene scar characterizing HRD homologous recombination repair defect and its identification method
  • A gene scar characterizing HRD homologous recombination repair defect and its identification method

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Embodiment Construction

[0055]In order to make the objects and advantages of the present invention, the present invention will be further described below in connection with the embodiments; it is understood that the specific embodiments described herein are merely intended to illustrate the invention.

[0056]A preferred embodiment of the present invention will be described below with reference to the accompanying drawings. Those skilled in the art will appreciate that these embodiments are merely used to illustrate the technical principles of the present invention, and is not to limit the scope of the invention.

[0057]It should be noted that the term "upper", "lower", "left", "left", ",", ",", ",", ",", " The direction or positional relationship is only for ease of description, rather than indicating or implying that the device or element must have a specific orientation, and is not understood to limit the limitations of the present invention.

[0058]In addition, it is also necessary to explain that in the desc...

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Abstract

The invention relates to a gene scar and an identification method for characterizing HRD homologous recombination repair defects, comprising the following steps: Step 1: Perform whole genome sequencing to obtain original gene data; Step 2: Establish chromosome information matrix X (X1, X2, X3...Xn ), step 3 data quality control, step 4 sequence alignment, step 5 delete duplicate reads, step 6 extract the LRP file through the signals of two genome copies; step 7 combine high-quality non-reference bases with high-quality bases The BAF file is extracted by comparing the quantity; step 8 generates fragmented LRP and BAF files for preprocessing, and obtains the copy number of A allele as nA and the copy number of B allele as nB, and step 9 obtains by nA and nB Telomere allele imbalance TAI score; step 10 obtains the large-scale transition LST score by the length of each site; step 11 obtains the loss of heterozygosity LOH score by judging the nA and nB of each SNP site; Step 12 statistically calculates the HRD score and makes a judgment.

Description

Technical field[0001]The present invention relates to the field of biological information, and in particular, to a gene scar and identification method for characterizing HRD homologous recombination repair defects.Background technique[0002]At present, the domestic patent "a genome recombinant fingerprint and the identification method of HHRD homologous recombinant defects" focuses on the genomic recombinant fingerprint in HRD, and has a high prediction efficiency of PARP inhibitors, and has a foreign research in foreign countries. "The phenomenon is referred to as Genomic Scars, including genomic heterozygous, English is LOSS ofheterozygosity, referred to as LOH, telomere allele imbalance English is TELOMERIC Allelic Immaance, referred to as TAI, large fragment migration, English Large-scale State Transition, referred to as LST. There is a study to detect integrated LOH, TAI, LST, etc., and the score is determined to define the BRCA mutant as HRD positive. However, the data is deriv...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): G16B30/10C12Q1/6869
CPCC12Q1/6869G16B30/10
Inventor 张哲孟元光杜欣欣
Owner 张哲
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