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

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

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

Authors: G Abecasis
D Altshuler
CA Anderson
A Angius
JC Barrett
M Boehnke
D Boomsma
K Branham
G Breen
CM Brummett
F Busonero
H Campbell
A Chan
S Chen
E Chew
M Cocca
FS Collins
LJ Corbin
F Cucca
P Danecek
S Das
PI de Bakker
G Dedoussis
A Dekker
O Delaneau
M Dorr
R Durbin
AE Farmaki
L Ferrucci
L Forer
RM Fraser
T Frayling
C Fuchsberger
S Gabriel
I Gandin
P Gasparini
CE Gillies
A Gilly
L Groop
Haplotype Reference Consortium
T Harrison
A Hattersley
OL Holmen
K Hveem
W Iacono
HM Kang
C Kooperberg
S Koskinen
M Kretzler
W Kretzschmar
A Kwong
JC Lee
S Levy
Y Luo
A Mahajan
J Marchini
S McCarroll
MI McCarthy
S McCarthy
M McGue
M McInnis
T Meitinger
D Melzer
M Mezzavilla
JL Min
KL Mohlke
RM Myers
M Nauck
D Nickerson
A Palotie
C Pato
M Pato
U Peters
N Pirastu
JB Richards
S Ripatti
C Sala
V Salomaa
MG Sampson
D Schlessinger
S Schoenherr
LJ Scott
K Sharp
C Sidore
PE Slagboom
K Small
GD Smith
N Soranzo
T Spector
D Stambolian
A Swaroop
MA Swertz
A Teumer
N Timpson
D Toniolo
M Traglia
M Tuke
J Tuomilehto
LH Van den Berg
CM van Duijn
W Van Rheenen
J Veldink
JB Vincent
U Volker
S Vrieze
K Walter
C Wijmenga
C Willer
JF Wilson
AR Wood
E Zeggini
H Zhang
Publication date: 1 January 2016
Publisher: Nat Genet
Doi

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