http://rdf.ncbi.nlm.nih.gov/pubchem/patent/WO-2019060640-A1
Outgoing Links
Predicate | Object |
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assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_ff80631d1cf46c77e99d6ceb87310760 |
classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G06F17-18 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6869 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B20-20 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B40-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B5-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12P19-34 |
classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
filingDate | 2018-09-20-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_1bd880df9723dd2505c71770ce8b3649 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_d357851a52e05d95cea941f1f82a8ee1 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_1c42dfb235f85af38fad4bbb55205aa7 |
publicationDate | 2019-03-28-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber | WO-2019060640-A1 |
titleOfInvention | METHODS AND SYSTEMS FOR DIFFERENTIATING SOMATIC VARIANTS AND GERMINAL LINE VARIANTS |
abstract | In one aspect, the present invention provides a method of identifying a somatic or germline origin of a nucleic acid variant from a sample of nucleic acid molecules, the method comprising: determining quantitative measurements for the nucleic acid variant, including a total number of alleles and a minor number of alleles for the nucleic acid variant; identifying an associated variable of the nucleic acid variant; determining a quantitative value for the associated variable; producing a statistical model for the expected numbers of germline mutant alleles at a genomic locus of the nucleic acid variant; producing a probability value (p value) for the nucleic acid variant based, at least in part, on the statistical model, the quantitative value, and at least one of the quantitative measurements; and classifying the nucleic acid variant as (i) being of somatic origin when the p value is below a predefined threshold value, or as (ii) germ line when the p value is greater than or equal to the threshold value predefined. |
isCitedBy | http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-11193175-B2 http://rdf.ncbi.nlm.nih.gov/pubchem/patent/WO-2022178137-A1 http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-11118234-B2 |
priorityDate | 2017-09-20-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 90.