A reference panel of 64,976 haplotypes for genotype imputation.
van Duijn, CM
Van den Berg, LH
Van Rheenen, W
de Bakker, PI
Haplotype Reference Consortium
Nature Publishing Group
Pre print made available under a CC-BY-NC-ND 4.0 International license.
We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry. Using this resource leads to accurate genotype imputation at minor allele frequencies as low as 0.1% and a large increase in the number of SNPs tested in association studies, and it can help to discover and refine causal loci. We describe remote server resources that allow researchers to carry out imputation and phasing consistently and efficiently.
J.M acknowledges support from the ERC (Grant no. 617306). W.K acknowledges support from the Wellcome Trust (Grant no. WT097307). S.M and R.D acknowledge support from Wellcome Trust grant WT090851. We are grateful to all participants of all the studies that have contributed data to the HRC.
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