Patent ID: 9218449
Filing Date: 2015-12-22
Classification: G16B

Abstract:
1. A method of characterizing a test genome or portion thereof, the method comprising: identifying a first chromosomal region having a first GC content in a reference genome; assembling an artificial reference chromosome including a plurality of disjoint regions of the reference genome, the plurality of disjoint regions being at least 50 kb in length, the artificial reference chromosome having a second GC content that is about the first GC content; aligning, by a computer system, each of a plurality of sequence tags with the first chromosomal region and with the artificial reference chromosome, wherein the sequence tags have been obtained by sequencing nucleic acids in a biological sample comprising cell-free nucleic acids from a first tissue and a second tissue; determining, by a computer system, a first amount of sequence tags that align with the first chromosomal region; determining, by a computer system, a reference amount of sequence tags that align with the artificial reference chromosome; determining a parameter from the first amount and the reference amount, the parameter including a ratio of the first amount and the reference amount; and comparing the parameter to a cutoff value, thereby determining a classification of an amplification or deletion in the first chromosomal region of the first tissue.