Patent ID: 8532930
Filing Date: 2013-09-10
Classification: G16B

Abstract:
1. An ex vivo method for determining a number of copies of a chromosome of interest, or section of the chromosome, in the genome of a target individual, that makes use of genetic data of one or more biological parents of the target individual, comprising; obtaining measured genetic data from (1) the target individual and (2) the one or more biological parents at a plurality of loci by measuring the quantity of each allele at each of the plurality of loci in genetic material from the target individual and the one or more biological parents, wherein the plurality of loci comprises single nucleotide polymorphisms, and wherein the plurality of loci comprises loci on the chromosome of interest or section of the chromosome of interest; enumerating, on a computer, a plurality of hypotheses specifying the number of copies of the chromosome of interest or section of the chromosome of interest present in the genome of the target individual; calculating, for each of the hypotheses, expected genetic data for the plurality of loci in the target individual from the measured genetic data from the one or more biological parents; calculating, on a computer, an error distribution for the measured genetic data; applying, on a computer, for each hypothesis, (i) the error distribution for the measured genetic data to the expected genetic data to give a probability distribution of the expected genetic data for the plurality of loci in the target individual, or (ii) the error distribution for the measured genetic data to the measured genetic data to give a probability distribution of the measured genetic data for the plurality of loci in the target individual; comparing, on a computer, for each of the hypotheses, (i) the probability distribution of the expected genetic data to the measured genetic data or (ii) the probability distribution of the measured genetic data to the expected genetic data, to give a probability that the hypothesis is true; ranking one or more of the hypotheses according to the probability that the hypothesis is true; and selecting the hypothesis that is ranked the highest, thereby determining the number of copies of the chromosome of interest or the section of the chromosome of interest in the genome of a target individual.