Patent ID: 8712697
Filing Date: 2014-04-29
Classification: G16B

Abstract:
1. A computer-implemented process for determining copy number variation (CNV) of a one or more genomic regions in a single source in a mixed sample, wherein at least one processor coupled to a memory executes a software component that performs the process comprising: accessing by the software component a first data set comprising frequency data based on identification of distinguishing regions of two or more informative loci from a first source in the single source in the mixed sample; accessing by the software component a second data set comprising frequency data based on identification of distinguishing regions of two or more informative loci from a second source in the single source in the mixed sample; calculating by the software component an estimated source contribution of cell free nucleic acids based on a binomial distribution of counts of the distinguishing regions from first and second data sets; accessing by the software component a third data set comprising frequency data for one or more genomic regions from the single source in the mixed sample; and calculating by the software component a presence or absence of a CNV for the one or more genomic regions by comparison of the frequency data from the single source to the estimated contribution of cell free nucleic acids in the mixed sample.