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Nature Research, Nature Genetics, 10(48), p. 1279-1283

DOI: 10.1038/ng.3643

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A reference panel of 64,976 haplotypes for genotype imputation

Journal article published in 2015 by Shane McCarthy ORCID, Leonard H. van den Berg, Paul I. W. de Bakker, Carlo Sidorel, Sayantan Das ORCID, Andrew R. Wood, Alexander Teumer, Warren Kretzschmar ORCID, Olivier Delaneau, Kevin Sharp, Hyun Min Kang, Carlo Sidore, Christian Fuchsberger, C. M. Van Duijn, Nicholas Timpson ORCID and other authors.
This paper is available in a repository.
This paper is available in a repository.

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Abstract

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.