Patent ID: 9514272
Filing Date: 2016-12-06
CPC Classification: G16B

Claim Text:
1. A method of detecting a structural variation in a genome of a sample from an organism, the method comprising: providing a plurality of aliquots, each aliquot comprising nucleic acid molecules of the genome that have barcodes to track from which aliquot a nucleic acid molecule originates, wherein each of the plurality of aliquots includes less than a genomic equivalent of the genome of the organism; sequencing a plurality of nucleic acid molecules in the plurality of aliquots to obtain sequences of the plurality of nucleic acid molecules and the barcodes; receiving, at a computer system, sequence data from the sequencing the sequence data including sequences of at least one portion of each nucleic acid molecule of the plurality of nucleic acid molecules, wherein the sequence data includes the barcodes for tracking from which aliquot a sequence originates; for each of the plurality of nucleic acid molecules: for each of the plurality of aliquots, calculating, with the computer system, a histogram for a first chromosomal region by: