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A reference panel of 64,976 haplotypes for genotype imputation.

Accepted version
Peer-reviewed

Type

Article

Change log

Authors

Kretzschmar, Warren  ORCID logo  https://orcid.org/0000-0002-2575-0807
Delaneau, Olivier 
Wood, Andrew R 

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.

Description

Keywords

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

Journal Title

Nat Genet

Conference Name

Journal ISSN

1061-4036
1546-1718

Volume Title

48

Publisher

Springer Science and Business Media LLC
Sponsorship
Wellcome Trust (091310/Z/10/Z)