A new fast phasing method based on haplotype subtraction

We developed a novel phasing approach, based solely on molecules and genotype frequency, and that does not rely on inference of new alleles. We initiated the project because of errors that were detected in the phased 1000 genomes data. The algorithm first combined identical genotypes into clusters and ranked them by descending frequency. Using alleles defined in homozygotes, it combined them to produce expected genotypes that were dismissed, and subtracted them from remaining genotypes to define additional new putative alleles.

Source: Journal of Molecular Diagnostics - March 10, 2019 Category: Pathology Authors: Evelina Mocci, Marija Debeljak, Alison P. Klein, James R. Eshleman Tags: Regular Article Source Type: research