A reference panel of 64,976 haplotypes for genotype imputation.
Accepted version
Peer-reviewed
Repository URI
Repository DOI
Change log
Authors
McCarthy, Shane https://orcid.org/0000-0002-2715-4187
Das, Sayantan https://orcid.org/0000-0001-6346-1590
Kretzschmar, Warren 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
1546-1718
Volume Title
48
Publisher
Springer Science and Business Media LLC
Publisher DOI
Sponsorship
Wellcome Trust (091310/Z/10/Z)