http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-112980961-B
Outgoing Links
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 |
Incoming Links
Total number of triples: 95.