System and method for cleaning noisy genetic data and using genetic phenotypic and clinical data to make predictions

摘要

There is disclosed a method for determining the number of copies of a chromosome, or segment of a chromosome, in the genome of a target individual. The method comprises (i) creating a set of one or more hypotheses about the number of instances of the given chromosome or chromosomes segment present in the genome of the target individual, (ii) obtaining genetic data for some or all of the possible alleles at a plurality of loci on the given chromosome or chromosome segment of the target individual, (iii) obtaining genetic data of one or more related individuals for some or all of the possible alleles at a plurality of loci on the given chromosome or chromosome segment, (iv) determining the relative probability of each of the hypotheses given the obtained genetic data of the individuals, and (v) using the relative probabilities associated with each hypothesis to determine the likely number of instances of the chromosome or the segment of a chromosome in the actual genetic material of the target individual. A data processing system and a computer-readable medium are also disclosed.