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A reference panel of 64,976 haplotypes for genotype imputation

Authors :
Steven A. McCarroll
Gerome Breen
Nicole Soranzo
Sayantan Das
Ilaria Gandin
Lukas Forer
David Schlessinger
Jonathan Marchini
Francesco Cucca
Anand Swaroop
Seppo Koskinen
Aliki-Eleni Farmaki
Alan Kwong
Gonçalo R. Abecasis
Marcus Dörr
Yang Luo
Andrew T. Chan
Andrea Angius
P. Eline Slagboom
Petr Danecek
Cinzia Sala
Ulrike Peters
Marcus A. Tuke
D.I. Boomsma
Jan H. Veldink
Nicholas J. Timpson
Scott I. Vrieze
Aarno Palotie
Matt McGue
Wouter van Rheenen
Melvin G. McInnis
Shawn Levy
George Dedoussis
Richard Durbin
Matthias Kretzler
Ross M. Fraser
C Sidore
David Melzer
Eleftheria Zeggini
Andrew R. Wood
Veikko Salomaa
Oddgeir L. Holmen
Alexander Teumer
Hyun Min Kang
James F. Wilson
Cristen J. Willer
Laura J. Scott
Richard M. Myers
George Davey Smith
Andrew T. Hattersley
Matthias Nauck
Matthew G. Sampson
Christian Fuchsberger
Josine L. Min
Leonard H. van den Berg
Thomas Meitinger
David Altshuler
John B. Vincent
Kevin Sharp
Jaakko Tuomilehto
Daniela Toniolo
Cornelia M. van Duijn
Samuli Ripatti
Stacey Gabriel
Michael Boehnke
Annelot M. Dekker
Francis S. Collins
He Zhang
Klaudia Walter
Deborah A. Nickerson
Nicola Pirastu
Morris A. Swertz
Kari Branham
Luigi Ferrucci
Sai Chen
Fabio Busonero
Paul I.W. de Bakker
Kristian Hveem
Charles Kooperberg
Michela Traglia
Warren W. Kretzschmar
Leif Groop
Tabitha A. Harrison
Sebastian Schoenherr
J. Brent Richards
Uwe Völker
Shane A. McCarthy
Harry Campbell
Massimo Mezzavilla
Chad M. Brummett
Mark I. McCarthy
Tim D. Spector
Dwight Stambolian
Massimiliano Cocca
Emily Y. Chew
Carlos N. Pato
Jeffrey C. Barrett
Christopher E. Gillies
William G. Iacono
Karen L. Mohlke
Olivier Delaneau
Laura J Corbin
Cisca Wijmenga
Anubha Mahajan
Timothy M. Frayling
James Lee
Michele T. Pato
Carl A. Anderson
Arthur Gilly
Kerrin S. Small
Paolo Gasparini
Biological Psychology
Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep
McCarthy, Shane [0000-0002-2715-4187]
Das, Sayantan [0000-0001-6346-1590]
Kretzschmar, Warren [0000-0002-2575-0807]
Durbin, Richard [0000-0002-9130-1006]
Apollo - University of Cambridge Repository
Epidemiology
Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)
Mccarthy, Shane
Das, Sayantan
Kretzschmar, Warren
Delaneau, Olivier
Wood, Andrew R
Teumer, Alexander
Kang, Hyun Min
Fuchsberger, Christian
Danecek, Petr
Sharp, Kevin
Luo, Yang
Sidore, Carlo
Kwong, Alan
Timpson, Nichola
Koskinen, Seppo
Vrieze, Scott
Scott, Laura J
Zhang, He
Mahajan, Anubha
Veldink, Jan
Peters, Ulrike
Pato, Carlo
van Duijn, Cornelia M
Gillies, Christopher E
Gandin, Ilaria
Mezzavilla, Massimo
Gilly, Arthur
Cocca, Massimiliano
Traglia, Michela
Angius, Andrea
Barrett, Jeffrey C
Boomsma, Dorrett
Branham, Kari
Breen, Gerome
Brummett, Chad M
Busonero, Fabio
Campbell, Harry
Chan, Andrew
Chen, Sai
Chew, Emily
Collins, Francis S
Corbin, Laura J
Smith, George Davey
Dedoussis, George
Dorr, Marcu
Farmaki, Aliki Eleni
Ferrucci, Luigi
Forer, Luka
Fraser, Ross M
Gabriel, Stacey
Levy, Shawn
Groop, Leif
Harrison, Tabitha
Hattersley, Andrew
Holmen, Oddgeir L
Hveem, Kristian
Kretzler, Matthia
Lee, James C
Mcgue, Matt
Meitinger, Thoma
Melzer, David
Min, Josine L
Mohlke, Karen L
Vincent, John B
Nauck, Matthia
Nickerson, Deborah
Palotie, Aarno
Pato, Michele
Pirastu, Nicola
Mcinnis, Melvin
Richards, J. Brent
Sala, Cinzia
Salomaa, Veikko
Schlessinger, David
Schoenherr, Sebastian
Slagboom, P. Eline
Small, Kerrin
Spector, Timothy
Stambolian, Dwight
Tuke, Marcu
Tuomilehto, Jaakko
van den Berg, Leonard H
van Rheenen, Wouter
Volker, Uwe
Wijmenga, Cisca
Toniolo, Daniela
Zeggini, Eleftheria
Gasparini, Paolo
Sampson, Matthew G
Wilson, James F
Frayling, Timothy
de Bakker, Paul I. W
Swertz, Morris A
Mccarroll, Steven
Kooperberg, Charle
Dekker, Annelot
Altshuler, David
Willer, Cristen
Iacono, William
Ripatti, Samuli
Soranzo, Nicole
Walter, Klaudia
Swaroop, Anand
Cucca, Francesco
Anderson, Carl A
Myers, Richard M
Boehnke, Michael
Mccarthy, Mark I
Durbin, Richard
Source :
Mccarthy, S, Das, S, Kretzschmar, W, Delaneau, O, Wood, A R, Teumer, A, Kang, H M, Fuchsberger, C, Danecek, P, Sharp, K, Luo, Y, Sidore, C, Kwong, A, Timpson, N, Koskinen, S, Vrieze, S, Scott, L J, Zhang, H, Mahajan, A, Veldink, J, Peters, U, Pato, C, Van Duijn, C M, Gillies, C E, Gandin, I, Mezzavilla, M, Gilly, A, Cocca, M, Traglia, M, Angius, A, Barrett, J C, Boomsma, D, Branham, K, Breen, G, Brummett, C M, Busonero, F, Campbell, H, Chan, A, Chen, S, Chew, E, Collins, F S, Corbin, L J, Smith, G D, Dedoussis, G, Dorr, M, Farmaki, A, Ferrucci, L, Forer, L, Fraser, R M, Gabriel, S, Levy, S, Groop, L, Harrison, T, Hattersley, A, Holmen, O L, Hveem, K, Kretzler, M, Lee, J C, Mcgue, M, Meitinger, T, Melzer, D, Min, J L, Mohlke, K L, Vincent, J B, Nauck, M, Nickerson, D, Palotie, A, Pato, M, Pirastu, N, Mcinnis, M, Richards, J B, Sala, C, Salomaa, V, Schlessinger, D, Schoenherr, S, Slagboom, P E, Small, K, Spector, T, Stambolian, D, Tuke, M, Tuomilehto, J, Van Den Berg, L H, Van Rheenen, W, Volker, U, Wijmenga, C, Toniolo, D, Zeggini, E, Gasparini, P, Sampson, M G, Wilson, J F, Frayling, T, De Bakker, P I W, Swertz, M A, Mccarroll, S, Kooperberg, C, Dekker, A, Altshuler, D, Willer, C, Iacono, W, Ripatti, S, Soranzo, N, Walter, K, Swaroop, A, Cucca, F, Anderson, C A, Myers, R M, Boehnke, M, Mccarthy, M I, Durbin, R, Abecasis, G & Marchini, J 2016, ' A reference panel of 64,976 haplotypes for genotype imputation ', Nature Genetics, vol. 48, no. 10, pp. 1279-1283 . https://doi.org/10.1038/ng.3643, McCarthy, S, Das, S, Kretzschmar, W, Delaneau, O, Wood, A R, Teumer, A, Kang, H M, Fuchsberger, C, Danecek, P, Sharp, K, Luo, Y, Sidore, C, Kwong, A, Timpson, N, Koskinen, S, Vrieze, S, Scott, L J, Zhang, H, Mahajan, A, Veldink, J, Peters, U, Pato, C, van Duijn, C M, Gillies, C E, Gandin, I, Mezzavilla, M, Gilly, A, Cocca, M, Traglia, M, Angius, A, Barrett, J C, Boomsma, D, Branham, K, Breen, G, Brummett, C M, Busonero, F, Campbell, H, Chan, A, Chen, S, Chew, E, Collins, F S, Corbin, L J, Smith, G D, Dedoussis, G, Dorr, M, Farmaki, A-E, Ferrucci, L, Forer, L, Min, J L, Soranzo, N 2016, ' A reference panel of 64,976 haplotypes for genotype imputation ', Nature Genetics, vol. 48, no. 10, pp. 1279-1283 . https://doi.org/10.1038/ng.3643, Nature Genetics, 48(10), 1279-1283. Nature Publishing Group, McCarthy, S, Das, S, Kretzschmar, W, Delaneau, O, Wood, A R, Teumer, A, Kang, H M, Fuchsberger, C, Danecek, P, Sharp, K, Luo, Y, Sidore, C, Kwong, A, Timpson, N J, Koskinen, S, Vrieze, S, Scott, L J, Zhang, H, Mahajan, A, Veldink, J, Peters, U, Pato, C, van Duijn, C M, Gillies, C E, Gandin, I, Mezzavilla, M, Gilly, A, Cocca, M, Traglia, M, Angius, A, Barrett, J C, Boomsma, D I, Branham, K, Breen, G, Brummett, C M, Busonero, F, Campbell, H, Chan, A, Chen, S, Chew, E, Collins, F S, Corbin, L J, Davey Smith, G, Dedoussis, G, Dorr, M, Farmaki, A-E, Ferrucci, L, Forer, L, Fraser, R M, Gabriel, S, Levy, S, Groop, L, Harrison, T, Hattersley, A, Holmen, O L, Hveem, K, Kretzler, M, Lee, J C, McGue, M, Meitinger, T, Melzer, D, Min, J L, Mohlke, K L, Vincent, J B, Nauck, M, Nickerson, D, Palotie, A, Pato, M, Pirastu, N, McInnis, M G, Brent Richards, J, Sala, C, Salomaa, V, Schlessinger, D, Schoenherr, S, Slagboom, P E, Small, K, Spector, T, Stambolian, D, Tuke, M, Tuomilehto, J, Van den Berg, L H, van Rheenen, W, Volker, U, Wijmenga, C, Toniolo, D, Zeggini, E, Gasparini, P, Sampson, M G, Wilson, J F, Frayling, T M, Bakker, P I W, Swertz, M A, McCarroll, S, Kooperberg, C, Dekker, A, Altshuler, D, Willer, C J, Iacono, W G, Ripatti, S, Soranzo, N, Walter, K, Swaroop, A, Cucca, F, Anderson, C A, Myers, R M, Boehnke, M, McCarthy, M I, Durbin, R, Abecasis, G & Marchini, J 2016, ' A reference panel of 64,976 haplotypes for genotype imputation ', Nature Genetics, vol. 48, no. 10, pp. 1279-1283 . https://doi.org/10.1038/ng.3643, Nature Genetics, 48(10), 1279-1283, Nat. Genet. 48, 1279-1283 (2016)
Publication Year :
2015
Publisher :
Cold Spring Harbor Laboratory, 2015.

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%, a large increase in the number of SNPs tested in association studies and 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

ISSN :
10614036
Database :
OpenAIRE
Journal :
Mccarthy, S, Das, S, Kretzschmar, W, Delaneau, O, Wood, A R, Teumer, A, Kang, H M, Fuchsberger, C, Danecek, P, Sharp, K, Luo, Y, Sidore, C, Kwong, A, Timpson, N, Koskinen, S, Vrieze, S, Scott, L J, Zhang, H, Mahajan, A, Veldink, J, Peters, U, Pato, C, Van Duijn, C M, Gillies, C E, Gandin, I, Mezzavilla, M, Gilly, A, Cocca, M, Traglia, M, Angius, A, Barrett, J C, Boomsma, D, Branham, K, Breen, G, Brummett, C M, Busonero, F, Campbell, H, Chan, A, Chen, S, Chew, E, Collins, F S, Corbin, L J, Smith, G D, Dedoussis, G, Dorr, M, Farmaki, A, Ferrucci, L, Forer, L, Fraser, R M, Gabriel, S, Levy, S, Groop, L, Harrison, T, Hattersley, A, Holmen, O L, Hveem, K, Kretzler, M, Lee, J C, Mcgue, M, Meitinger, T, Melzer, D, Min, J L, Mohlke, K L, Vincent, J B, Nauck, M, Nickerson, D, Palotie, A, Pato, M, Pirastu, N, Mcinnis, M, Richards, J B, Sala, C, Salomaa, V, Schlessinger, D, Schoenherr, S, Slagboom, P E, Small, K, Spector, T, Stambolian, D, Tuke, M, Tuomilehto, J, Van Den Berg, L H, Van Rheenen, W, Volker, U, Wijmenga, C, Toniolo, D, Zeggini, E, Gasparini, P, Sampson, M G, Wilson, J F, Frayling, T, De Bakker, P I W, Swertz, M A, Mccarroll, S, Kooperberg, C, Dekker, A, Altshuler, D, Willer, C, Iacono, W, Ripatti, S, Soranzo, N, Walter, K, Swaroop, A, Cucca, F, Anderson, C A, Myers, R M, Boehnke, M, Mccarthy, M I, Durbin, R, Abecasis, G & Marchini, J 2016, ' A reference panel of 64,976 haplotypes for genotype imputation ', Nature Genetics, vol. 48, no. 10, pp. 1279-1283 . https://doi.org/10.1038/ng.3643, McCarthy, S, Das, S, Kretzschmar, W, Delaneau, O, Wood, A R, Teumer, A, Kang, H M, Fuchsberger, C, Danecek, P, Sharp, K, Luo, Y, Sidore, C, Kwong, A, Timpson, N, Koskinen, S, Vrieze, S, Scott, L J, Zhang, H, Mahajan, A, Veldink, J, Peters, U, Pato, C, van Duijn, C M, Gillies, C E, Gandin, I, Mezzavilla, M, Gilly, A, Cocca, M, Traglia, M, Angius, A, Barrett, J C, Boomsma, D, Branham, K, Breen, G, Brummett, C M, Busonero, F, Campbell, H, Chan, A, Chen, S, Chew, E, Collins, F S, Corbin, L J, Smith, G D, Dedoussis, G, Dorr, M, Farmaki, A-E, Ferrucci, L, Forer, L, Min, J L, Soranzo, N 2016, ' A reference panel of 64,976 haplotypes for genotype imputation ', Nature Genetics, vol. 48, no. 10, pp. 1279-1283 . https://doi.org/10.1038/ng.3643, Nature Genetics, 48(10), 1279-1283. Nature Publishing Group, McCarthy, S, Das, S, Kretzschmar, W, Delaneau, O, Wood, A R, Teumer, A, Kang, H M, Fuchsberger, C, Danecek, P, Sharp, K, Luo, Y, Sidore, C, Kwong, A, Timpson, N J, Koskinen, S, Vrieze, S, Scott, L J, Zhang, H, Mahajan, A, Veldink, J, Peters, U, Pato, C, van Duijn, C M, Gillies, C E, Gandin, I, Mezzavilla, M, Gilly, A, Cocca, M, Traglia, M, Angius, A, Barrett, J C, Boomsma, D I, Branham, K, Breen, G, Brummett, C M, Busonero, F, Campbell, H, Chan, A, Chen, S, Chew, E, Collins, F S, Corbin, L J, Davey Smith, G, Dedoussis, G, Dorr, M, Farmaki, A-E, Ferrucci, L, Forer, L, Fraser, R M, Gabriel, S, Levy, S, Groop, L, Harrison, T, Hattersley, A, Holmen, O L, Hveem, K, Kretzler, M, Lee, J C, McGue, M, Meitinger, T, Melzer, D, Min, J L, Mohlke, K L, Vincent, J B, Nauck, M, Nickerson, D, Palotie, A, Pato, M, Pirastu, N, McInnis, M G, Brent Richards, J, Sala, C, Salomaa, V, Schlessinger, D, Schoenherr, S, Slagboom, P E, Small, K, Spector, T, Stambolian, D, Tuke, M, Tuomilehto, J, Van den Berg, L H, van Rheenen, W, Volker, U, Wijmenga, C, Toniolo, D, Zeggini, E, Gasparini, P, Sampson, M G, Wilson, J F, Frayling, T M, Bakker, P I W, Swertz, M A, McCarroll, S, Kooperberg, C, Dekker, A, Altshuler, D, Willer, C J, Iacono, W G, Ripatti, S, Soranzo, N, Walter, K, Swaroop, A, Cucca, F, Anderson, C A, Myers, R M, Boehnke, M, McCarthy, M I, Durbin, R, Abecasis, G & Marchini, J 2016, ' A reference panel of 64,976 haplotypes for genotype imputation ', Nature Genetics, vol. 48, no. 10, pp. 1279-1283 . https://doi.org/10.1038/ng.3643, Nature Genetics, 48(10), 1279-1283, Nat. Genet. 48, 1279-1283 (2016)
Accession number :
edsair.doi.dedup.....471c101999ca81cb0a13586083e74836