Patent ID: 8725422
Filing Date: 2014-05-13
Classification: C12Q,G16B

Abstract:
1. A method for determining copy number variation of a genomic region at a detection position of a target polynucleotide sequence in a sample, said method comprising: obtaining, using a computer, coverage values for each given position in a baseline or reference sample for the sequence coverage of said target polynucleotide using data generated from mate-pair mappings; correcting, using the computer, the coverage values for each given position for sequence coverage bias, wherein correcting the coverage values for each given position in a baseline or reference sample comprises performing ploidy-aware baseline correction; and estimating, using the computer, a total copy number value and region-specific copy number value for each of a plurality of genomic regions based at least on the corrected coverage values for each given position in a baseline or reference sample.