DETERMINATION OF COPY NUMBER VARIATIONS USING BINOMIAL PROBABILITY CALCULATIONS

摘要

This invention relates to a binomial calculation of copy number of data obtained from a mixed sample having a first source and a second source.

主权项

1. A computer-implemented process for calculating copy number variation (CNV) of 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 two or more genomic regions from the combined first and second sources in the mixed sample; and calculating by the software component a presence or absence of a CNV for one or more genomic regions by comparison of the frequency data from the two or more genomic regions from the combined first and second sources and the estimated contribution of cell free nucleic acids in the mixed sample.