Use of ancestral haplotypes in genome-wide association studies

Abstract

We herein present a haplotype-based method to perform genome-wide association studies. The method relies on hidden Markov models to describe haplotypes from a population as a mosaic of a set of ancestral haplotypes. For a given position in the genome, haplotypes deriving from the same ancestral haplotype are also likely to carry the same risk alleles. Therefore, the model can be used in several applications such as haplotype reconstruction, imputation, association studies or genomic predictions. We illustrate then the model with two applications: the fine-mapping of a QTL affecting live weight in cattle and association studies in a stratified cattle population. Both applications show the potential of the method and the high linkage disequilibrium between ancestral haplotypes and causative variants. © Springer Science+Business Media, LLC 2013.