Patent ID: 9121069
Filing Date: 2015-09-01
Classification: C12Q,G16B

Abstract:
1. A method of analyzing a biological sample of a human for deletions or amplifications in one or more chromosomal regions associated with cancer, the biological sample including cell-free nucleic acid molecules originating from non-malignant cells and potentially from tumor cells associated with cancer, the method comprising: performing a random sequencing of nucleic acid molecules from biological sample by: receiving, at a computer system, the sequences obtained from the random sequencing of nucleic acid molecules contained in the biological sample; aligning, by the computer system, at least a portion of the sequences to a human genome; determining, by the computer system, a first amount of sequences identified as aligning to a first chromosomal region that is part of a first chromosome, wherein a deletion or an amplification in the first chromosomal region is associated with cancer; determining, by the computer system, a second amount of sequences identified as aligning to one or more second chromosomal regions; determining a first parameter from the first amount and the second amount, wherein the first parameter represents a relative amount between the first and second amounts; and comparing the first parameter to one or more cutoff values to determine a classification of whether the first chromosomal region exhibits a deletion or an amplification associated with cancer in the human.