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Nature Research, Nature Genetics, 10(48), p. 1279-1283, 2016

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 Leonard H. van den Berg, Cornelia M. van Duijn, Paul I. W. de Bakker, Andrew R. Wood, Scott Vrieze, C. M. Van Duijn, He Zhang, Jan Veldink, Michela Traglia, John B. Vincent, Marcus Tuke, Jaakko Tuomilehto, Wouter Van Rheenen, Uwe Volker, Cisca Wijmenga and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.