A reference panel of 64,976 haplotypes for genotype imputation

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, Nicholas; Koskinen, Seppo; Vrieze, Scott; Scott, Laura J; Zhang, He; Mahajan, Anubha; Veldink, Jan; Peters, Ulrike; Pato, Carlos; 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, Marcus; Farmaki, Aliki Eleni; Ferrucci, Luigi; Forer, Lukas; Fraser, Ross M; Gabriel, Stacey; Levy, Shawn; Groop, Leif; Harrison, Tabitha; Hattersley, Andrew; Holmen, Oddgeir L; Hveem, Kristian; Kretzler, Matthias; Lee, James C; Mcgue, Matt; Meitinger, Thomas; Melzer, David; Min, Josine L; Mohlke, Karen L; Vincent, John B; Nauck, Matthias; 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, Marcus; 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, Charles; 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

doi:10.1038/ng.3643

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.

Titolo:	A reference panel of 64,976 haplotypes for genotype imputation
Autori:	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, Nicholas Koskinen, Seppo Vrieze, Scott Scott, Laura J Zhang, He Mahajan, Anubha Veldink, Jan Peters, Ulrike Pato, Carlos 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, Marcus Farmaki, Aliki Eleni Ferrucci, Luigi Forer, Lukas Fraser, Ross M Gabriel, Stacey Levy, Shawn Groop, Leif Harrison, Tabitha Hattersley, Andrew Holmen, Oddgeir L Hveem, Kristian Kretzler, Matthias Lee, James C Mcgue, Matt Meitinger, Thomas Melzer, David Min, Josine L Mohlke, Karen L Vincent, John B Nauck, Matthias 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, Marcus 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, Charles 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 mostra contributor esterni nascondi contributor esterni
Data di pubblicazione:	2016
Rivista:	NATURE GENETICS
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.
Handle:	http://hdl.handle.net/11368/2881315
Digital Object Identifier (DOI):	http://dx.doi.org/10.1038/ng.3643
URL:	http://www.nature.com/ng/journal/v48/n10/abs/ng.3643.html
Appare nelle tipologie:	1.1 Articolo in Rivista

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