Patent ID: 6895337

Claim:
A method for detecting an increased likelihood of a genomic rearrangement in an allele of a diploid subject, said method comprising the steps of: providing a haplotype collection comprising canonical haplotypes and single-recombination recombinant canonical haplotypes for a chromosome region in a heterogeneous subject population, each of said canonical haplotypes and single-recombination recombinant canonical haplotypes comprising a plurality of nucleotide variant markers; providing unphased genotypes at said plurality of nucleotide variant markers in said chromosome region in said diploid subject; and comparing said unphased genotypes with said canonical haplotypes and said single-recombination recombinant canonical haplotypes, wherein a result that said unphased genotypes cannot be reduced to a pair of haplotypes formed by said canonical haplotypes and/or said single-recombination recombinant canonical haplotypes would indicate an increased likelihood that an allele of said chromosome region in said diploid subject harbors a genomic rearrangement.