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

Nat Genet

Authors	Shane McCarthy Sayantan Das Warren Kretzschmar Olivier Delaneau Andrew Wood Alexander Teumer Hyun Kang Christian Fuchsberger Petr Danecek Kevin Sharp Yang Luo Carlo Sidore Alan Kwong Nicholas Timpson Seppo Koskinen Scott Vrieze Laura Scott He Zhang Anubha Mahajan Jan Veldink Ulrike Peters Carlos Pato Cornelia van Duijn Christopher Gillies Ilaria Gandin Massimo Mezzavilla Arthur Gilly Massimiliano Cocca Michela Traglia Andrea Angius Jeffrey Barrett Dorrett Boomsma Kari Branham Gerome Breen Chad Brummett Fabio Busonero Harry Campbell Andrew Chan Sai Chen Emily Chew Francis Collins Laura Corbin George Smith George Dedoussis Marcus Dorr Aliki-Eleni Farmaki Luigi Ferrucci Lukas Forer Ross Fraser Stacey Gabriel Shawn Levy Leif Groop Tabitha Harrison Andrew Hattersley Oddgeir Holmen Kristian Hveem Matthias Kretzler James Lee Matt McGue Thomas Meitinger David Melzer Josine Min Karen Mohlke John Vincent Matthias Nauck Deborah Nickerson Aarno Palotie Michele Pato Nicola Pirastu Melvin McInnis J Brent Richards Cinzia Sala Veikko Salomaa David Schlessinger Sebastian Schoenherr P Eline Slagboom Kerrin Small Timothy Spector Dwight Stambolian Marcus Tuke Jaakko Tuomilehto Leonard Van den Berg Wouter Van Rheenen Uwe Volker Cisca Wijmenga Daniela Toniolo Eleftheria Zeggini Paolo Gasparini Matthew Sampson James Wilson Timothy Frayling Paul de Bakker Morris Swertz Steven McCarroll Charles Kooperberg Annelot Dekker David Altshuler Cristen Willer William Iacono Samuli Ripatti Nicole Soranzo Klaudia Walter Anand Swaroop Francesco Cucca Carl Anderson Richard Myers Michael Boehnke Mark McCarthy Richard Durbin Haplotype Reference Consortium
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.
Year of Publication	2016
Journal	Nat Genet
Volume	48
Issue	10
Pages	1279-83
Date Published	2016 Oct
ISSN	1546-1718
DOI	10.1038/ng.3643
PubMed ID	27548312
Links
Grant list	R01 HL117626 / HL / NHLBI NIH HHS / United States