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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.

Original publication

DOI

10.1038/ng.3643

Type

Journal article

Journal

Nature genetics

Publication Date

10/2016

Volume

48

Pages

1279 - 1283

Addresses

Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK.

Keywords

Haplotype Reference Consortium, Humans, Genetic Techniques, Genotype, Haplotypes, Polymorphism, Single Nucleotide, Alleles, Reference Values, Internet, Genome-Wide Association Study