| 主权项 |
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:
aligning, with the computer system, at least one sequence of the nucleic acid molecule to a reference genome; for each of the plurality of aliquots, calculating, with the computer system, a histogram for a first chromosomal region by:
identifying a respective group of sequences as being derived from a same fragment of DNA based on the barcodes of the respective group of sequences corresponding to a same aliquot, the same fragment including at least a portion of the first chromosomal region;for each genomic position of a plurality of genomic positions within the first chromosomal region:
aggregating a number of instances that an aligned sequence of the respective group includes the genomic position;comparing the histograms to identify a common increase or decrease in the histograms within a same window of the first chromosomal region as a location of the structural variation in the first chromosomal region of the genome of the organism. |
