Year: 2015
Type: preprint
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.
DOI: 10.1101/035170
Authors: Shane McCarthy, Sayantan Das, Warren Kretzschmar, Olivier Delaneau, Andrew R. Wood, Alexander Teumer, Hyun Min Kang, Christian Fuchsberger, Petr Danecek, Kevin Sharp, Yang Luo, Carlo Sidore, Alan Kwong, Nicholas Timpson, Seppo Koskinen, Scott Vrieze, Laura J. Scott, He Zhang, Anubha Mahajan, Jan Veldink, Ulrike Peters, Carlos Pato, Cornelia M. van Duijn, Christopher E. Gillies, Ilaria Gandin, Massimo Mezzavilla, Arthur Gilly, Massimiliano Cocca, Michela Traglia, Andrea Angius, Jeffrey Barrett, Dorret I. Boomsma, Kari Branham, Gerome Breen, Chad Brummet, Fabio Busonero, Hariy Campbell, Andrew Chan, Sai Chen, Emily Chew, Francis S. Collins, Laura Corbin, George Davey Smith, George Dedoussis, Marcus Dorr, Aliki-Eleni Farmaki, Luigi Ferrucci, Lukas Forer, Ross M. Fraser, Stacey Gabriel, Shawn Levy, Leif Groop, Tabitha Harrison, Andrew Hattersley, Oddgeir L. Holmen, Kristian Hveem, Matthias Kretzler, James Lee, Matt McGue, Thomas Meitinger, David Melzer, Josine Min, Karen L. Mohlke, John Vincent, Matthias Nauck, Deborah Nickerson, Aarno Palotie, Michele Pato, Nicola Pirastu, Melvin Mclnnis, Brent Richards, Cinzia Sala, Veikko Salomaa, David Schlessinger, Sebastian Schoenheer, 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 G. Sampson, James F. Wilson, Timothy Frayling, Paul de Bakker, Morris A. Swertz, Steven McCarroll, Charles Kooperberg, Annelot Dekker, David Altshuler, Cristen Wilier, William Iacono, Samuli Ripatti, Nicole Soranzo, Klaudia Walter, Anand Swaroop, Francesco Cucca, Carl Anderson, Michael Boehnke, Mark I. McCarthy, Richard Durbin, Gonçalo Abecasis, Jonathan Marchini
Institutions: Wellcome Sanger Institute, University of Michigan, Centre for Human Genetics, University of Oxford, University of Geneva, University of Exeter, Universitätsmedizin Greifswald, Universität Greifswald, German Centre for Cardiovascular Research, Institute of Genetic and Biomedical Research, University of Bristol, MRC Integrative Epidemiology Unit, Finnish Institute for Health and Welfare, University of Colorado Boulder, Michigan Medicine, University of Washington, Fred Hutch Cancer Center, SUNY Downstate Health Sciences University, Erasmus MC, University of Trieste, IRCCS Materno Infantile Burlo Garofolo, IRCCS Ospedale San Raffaele, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, King's College London, Maudsley Hospital, University of Edinburgh, Brigham and Women's Hospital, Harvard University, Massachusetts General Hospital, National Institutes of Health, National Eye Institute, National Human Genome Research Institute, Harokopio University of Athens, National Institute on Aging, Universität Innsbruck, Broad Institute, Massachusetts Institute of Technology, HudsonAlpha Institute for Biotechnology, University of Helsinki, Lund University, Institute for Molecular Medicine Finland, Norwegian University of Science and Technology, University of Cambridge, Addenbrooke's Hospital, University of Minnesota, Helmholtz Munich, Institut für Humangenetik, Technical University of Munich, University of North Carolina at Chapel Hill, Centre for Addiction and Mental Health, University of Toronto, McGill University, Leiden University Medical Center, University of Pennsylvania, Universität für Weiterbildung Krems, King Abdulaziz University, Hospital Universitario La Paz, Universidad Autónoma de Madrid, University Medical Center Groningen, Western General Hospital, Institute of Genetics and Cancer, MRC Human Genetics Unit, Utrecht University, University Medical Center Utrecht, University of Groningen, Stanley Center for Psychiatric Research, Churchill Hospital, NIHR Oxford Biomedical Research Centre, Oxford Centre for Diabetes, Endocrinology and Metabolism
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2805074752