http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-112980961-B

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Predicate Object
classificationCPCAdditional http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156
classificationCPCInventive http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B20-20
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6886
classificationIPCInventive http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B20-20
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6886
filingDate 2021-05-11-04:00^^<http://www.w3.org/2001/XMLSchema#date>
grantDate 2021-08-27-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationDate 2021-08-27-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber CN-112980961-B
titleOfInvention Method and device for jointly detecting SNV (single nucleotide polymorphism), CNV (CNV) and FUSION (FUSION mutation)
abstract The present disclosure relates to methods and apparatus for joint detection of SNV, CNV and FUSION variants. More specifically, the apparatus comprises: a sequencing data read-in module; an SNV detection module; a CNV detection module; a FUSION mutation detection module; and a result output module, wherein the CNV detection module comprises the following modules: a BAF calculation module; a BAF correction module; a BAF separation and identification module; a sequencing depth calculation module; a logR correction module; a logR background noise calculation module; and a CNV determination module. The method and the device can detect SNV, CNV and FUSION variation in a sample with extremely low ctDNA ratio, especially CNV variation of low copy number amplification, with high sensitivity and high specificity based on BAF + logR information.
priorityDate 2021-05-11-04:00^^<http://www.w3.org/2001/XMLSchema#date>
type http://data.epo.org/linked-data/def/patent/Publication

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