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filingDate 2018-09-20-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_1bd880df9723dd2505c71770ce8b3649
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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.
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