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filingDate 2022-08-08-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_dfab31958faf977b0386de986c52f4f5
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publicationDate 2022-10-11-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber CN-115171785-A
titleOfInvention A method for detecting homologous recombination defects based on whole genome sequencing
abstract The invention discloses a method for detecting homologous recombination defects based on whole genome sequencing, and relates to the technical field of gene detection. It includes the following steps: analyzing and aligning the sequencing data of the sample to be tested with the reference genome, sorting the data, deduplicating the data, and then evaluating the HRD status; the HRD status assessment includes: importing the deduplicated file into the HRD status scoring software , set the configure file as the diploid parameter, and score the HRD status. This method has the technical advantages of low experimental complexity and low sample requirements, and on the basis of low sequencing volume (average sequencing depth ≤ 2×), it maintains the same level of accuracy as similar products, and significantly reduces about an order of magnitude of accuracy. inspection cost.
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