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

Authors :
McCarthy S
Das S
Kretzschmar W
Delaneau O
Wood AR
Teumer A
Kang HM
Fuchsberger C
Danecek P
Sharp K
Luo Y
Sidore C
Kwong A
Timpson N
Koskinen S
Vrieze S
Scott LJ
Zhang H
Mahajan A
Veldink J
Peters U
Pato C
van Duijn CM
Gillies CE
Gandin I
Mezzavilla M
Gilly A
Cocca M
Traglia M
Angius A
Barrett JC
Boomsma D
Branham K
Breen G
Brummett CM
Busonero F
Campbell H
Chan A
Chen S
Chew E
Collins FS
Corbin LJ
Smith GD
Dedoussis G
Dorr M
Farmaki AE
Ferrucci L
Forer L
Fraser RM
Gabriel S
Levy S
Groop L
Harrison T
Hattersley A
Holmen OL
Hveem K
Kretzler M
Lee JC
McGue M
Meitinger T
Melzer D
Min JL
Mohlke KL
Vincent JB
Nauck M
Nickerson D
Palotie A
Pato M
Pirastu N
McInnis M
Richards JB
Sala C
Salomaa V
Schlessinger D
Schoenherr S
Slagboom PE
Small K
Spector T
Stambolian D
Tuke M
Tuomilehto J
Van den Berg LH
Van Rheenen W
Volker U
Wijmenga C
Toniolo D
Zeggini E
Gasparini P
Sampson MG
Wilson JF
Frayling T
de Bakker PI
Swertz MA
McCarroll S
Kooperberg C
Dekker A
Altshuler D
Willer C
Iacono W
Ripatti S
Soranzo N
Walter K
Swaroop A
Cucca F
Anderson CA
Myers RM
Boehnke M
McCarthy MI
Durbin R
Source :
Nature genetics [Nat Genet] 2016 Oct; Vol. 48 (10), pp. 1279-83. Date of Electronic Publication: 2016 Aug 22.
Publication Year :
2016

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.

Details

Language :
English
ISSN :
1546-1718
Volume :
48
Issue :
10
Database :
MEDLINE
Journal :
Nature genetics
Publication Type :
Academic Journal
Accession number :
27548312
Full Text :
https://doi.org/10.1038/ng.3643