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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 and Sharp, Kevin, et al. (2016) In Nature Genetics 48(10). p.1279-1283
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.

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Nature Genetics
volume
48
issue
10
pages
5 pages
publisher
Nature Publishing Group
external identifiers
  • scopus:84983479616
  • wos:000384391600025
ISSN
1061-4036
DOI
10.1038/ng.3643
language
English
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yes
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d9051ca5-69ec-4527-870a-53c06a0c2cc2
date added to LUP
2016-10-28 11:08:06
date last changed
2017-11-19 04:34:19
@article{d9051ca5-69ec-4527-870a-53c06a0c2cc2,
  abstract     = {<p>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.</p>},
  author       = {McCarthy, Shane and Das, Sayantan and Kretzschmar, Warren and Delaneau, Olivier and Wood, Andrew R. and Teumer, Alexander and Kang, Hyun Min and Fuchsberger, Christian and Danecek, Petr and Sharp, Kevin and Luo, Yang and Sidore, Carlo and Kwong, Alan and Timpson, Nicholas and Koskinen, Seppo and Vrieze, Scott and Scott, Laura J. and Zhang, He and Mahajan, Anubha and Veldink, Jan and Peters, Ulrike and Pato, Carlos and Van Duijn, Cornelia M. and Gillies, Christopher E. and Gandin, Ilaria and Mezzavilla, Massimo and Gilly, Arthur and Cocca, Massimiliano and Traglia, Michela and Angius, Andrea and Barrett, Jeffrey C. and Boomsma, Dorrett and Branham, Kari and Breen, Gerome and Brummett, Chad M. and Busonero, Fabio and Campbell, Harry and Chan, Andrew and Chen, Sai and Chew, Emily and Collins, Francis S. and Corbin, Laura J. and Smith, George Davey and Dedoussis, George and Dorr, Marcus and Farmaki, Aliki Eleni and Ferrucci, Luigi and Forer, Lukas and Fraser, Ross M. and Gabriel, Stacey and Levy, Shawn and Groop, Leif and Harrison, Tabitha and Hattersley, Andrew and Holmen, Oddgeir L. and Hveem, Kristian and Kretzler, Matthias and Lee, James C. and McGue, Matt and Meitinger, Thomas and Melzer, David and Min, Josine L. and Mohlke, Karen L. and Vincent, John B. and Nauck, Matthias and Nickerson, Deborah and Palotie, Aarno and Pato, Michele and Pirastu, Nicola and McInnis, Melvin and Richards, J. Brent and Sala, Cinzia and Salomaa, Veikko and Schlessinger, David and Schoenherr, Sebastian and Slagboom, P. Eline and Small, Kerrin and Spector, Timothy and Stambolian, Dwight and Tuke, Marcus and Tuomilehto, Jaakko and Van Den Berg, Leonard H. and Van Rheenen, Wouter and Volker, Uwe and Wijmenga, Cisca and Toniolo, Daniela and Zeggini, Eleftheria and Gasparini, Paolo and Sampson, Matthew G. and Wilson, James F. and Frayling, Timothy and De Bakker, Paul I W and Swertz, Morris A. and McCarroll, Steven and Kooperberg, Charles and Dekker, Annelot and Altshuler, David and Willer, Cristen and Iacono, William and Ripatti, Samuli and Soranzo, Nicole and Walter, Klaudia and Swaroop, Anand and Cucca, Francesco and Anderson, Carl A. and Myers, Richard M. and Boehnke, Michael and McCarthy, Mark I. and Durbin, Richard and Abecasis, Gonçalo and Marchini, Jonathan},
  issn         = {1061-4036},
  language     = {eng},
  month        = {10},
  number       = {10},
  pages        = {1279--1283},
  publisher    = {Nature Publishing Group},
  series       = {Nature Genetics},
  title        = {A reference panel of 64,976 haplotypes for genotype imputation},
  url          = {http://dx.doi.org/10.1038/ng.3643},
  volume       = {48},
  year         = {2016},
}