Patent ID: 9639657
Date: 2017-05-02
CPC Classifications: C12Q,G16B

Claim:
1. A method for determining a ploidy state of at least one chromosome or chromosome segment in the genome of an embryo, the method comprising: obtaining a biological sample measuring, from the biological sample, genetic data for the at least one chromosome or chromosome segment from the embryo and from one or more parents of the embryo, wherein the genetic data is the measured responses at various single nucleotide polymorphism (SNP) loci on the at least one chromosome; creating, on a computer, a set of at least one ploidy state hypothesis for the at least one chromosome or chromosome segment of the embryo; using two or more expert techniques to determine, on a computer, for each expert technique used, a statistical probability for each ploidy state hypothesis in the set given the measured genetic data, wherein the expert techniques are selected from: the Presence of Homologs technique, which technique uses genetic data obtained from both parents where one parent is heterozygous at a SNP and the other parent is homozygous at that SNP, wherein the Presence of Homologs technique comprises; the Permutation technique, which technique compares the relationship between distributions of the obtained genetic data of the embryo for different parental genotypes using a statistical algorithm to determine the probability of each ploidy state hypothesis given the obtained genetic data; and the Presence of Parents technique, which technique detects, independently for each parent, for a given chromosome, whether or not there is a contribution from that parent's genome based on distances between sets of parental genotypes at the widest point on cumulative distribution function curves which plot observed distributions of obtained genetic data for different parental genotypes, and assigns probabilities to each ploidy state hypothesis by calculating a summary statistic for each parent and comparing to data models for cases where a parent chromosome is present and cases where a parent chromosome is not present; combining, for each ploidy state hypothesis, the statistical probabilities as determined by the two or more expert techniques to determine combined statistical probabilities; and outputting the ploidy state with the greatest combined statistical probability as an indication of the ploidy state for the at least one chromosome or chromosome segment in the genome of the embryo.