http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-113889187-A

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filingDate 2021-09-24-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_16d9158cfb5abfe9a22388dcbf42ab99
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_49499a69ee26d52ec4602c02fadccbf1
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publicationDate 2022-01-04-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber CN-113889187-A
titleOfInvention Single-sample allelic copy number variation detection methods, probe sets and kits
abstract The present invention discloses a probe set for allele copy number variation detection, the genomic region covered by the probe set includes 305 exon regions of the 15 homologous recombination repair related genes in Table 1. The invention also discloses a kit comprising the probe set and a method for detecting allele copy number variation in a specific genomic region of a single sample by using the probe set. The method compares the sequencing data of the target gene sequence of the sample to be tested. For the reference gene, the sample data of linear regression clustering is used as the background set, and the software parameters optimized by the training set are used to detect the copy number changes above the DNA exon level of key genes in the homologous recombination repair pathway, and comprehensively, etc. Allele frequency and tumor purity information to predict copy number variation types. This method not only can examine the copy number variation at the exon level of multiple genes at once, but also has high sensitivity, accuracy and specificity, and low cost.
isCitedBy http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-116230082-A
priorityDate 2021-09-24-04:00^^<http://www.w3.org/2001/XMLSchema#date>
type http://data.epo.org/linked-data/def/patent/Publication

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