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publicationDate 2020-12-24-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber US-2020402613-A1
titleOfInvention Improvements in variant detection
abstract The present invention provides a computer-implemented method for detecting cell-free DNA (cfDNA), such as circulating tumour DNA, in a DNA-containing sample obtained from a patient, the method comprising: (a) providing loci of interest comprising at least 2 mutation-containing loci representative of a tumour of the patient (“patient-specific loci”); (b) providing sequence data comprising sequence reads of a plurality of polynucleotide fragments from a DNA-containing sample from the patient, wherein said sequence reads span said at least 2 mutation-containing loci of step (a); (c) optionally, performing reads collapsing to group the sequence reads into read families; (d) calculating the mutant allele fraction across some or all of said at least 2 patient-specific loci, optionally wherein the mutant allele fraction is calculated by aggregating mutant reads and total reads; (e) classifying the sample as containing or not containing the target cfDNA based on the calculated mutant allele fraction. Also provided a related methods and systems.
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