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

Autor: McCarthy S; Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK., Das S; Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.; Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA., Kretzschmar W; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK., Delaneau O; Genetics and Development, University of Geneva, Geneva, Switzerland., Wood AR; Genetics of Complex Traits, Institute of Biomedical Science, University of Exeter Medical School, Exeter, UK., Teumer A; Institute for Community Medicine, University Medicine Greifswald, Greifswald, Germany.; DZHK (German Centre for Cardiovascular Research), Greifswald, Germany., Kang HM; Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.; Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA., Fuchsberger C; Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.; Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA., Danecek P; Vertebrate Resequencing Informatics, Wellcome Trust Sanger Institute, Hinxton, UK., Sharp K; Department of Statistics, University of Oxford, Oxford, UK., Luo Y; Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK., Sidore C; IRGB, CNR, Sardinia, Italy., Kwong A; Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.; Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA., Timpson N; MRC Integrative Epidemiology Unit, University of Bristol, Oakfield Grove, UK., Koskinen S; THL, Helsinki, Finland., Vrieze S; Institute for Behavioral Genetics, University of Colorado, Boulder, Colorado, USA.; Department of Psychology and Neurosurgery, University of Colorado, Boulder, Colorado, USA., Scott LJ; Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.; Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA., Zhang H; Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA., Mahajan A; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK., Veldink J; Department of Neurology and Neurosurgery, Brain Center Rudolf Magnus, Utrecht, the Netherlands., Peters U; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.; Department of Epidemiology, University of Washington School of Public Health, Seattle, Washington, USA., Pato C; Department of Psychiatry, SUNY Downstate, Brooklyn, New York, USA., van Duijn CM; Genetic Epidemiology Unit, Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands., Gillies CE; Department of Pediatrics-Nephrology, University of Michigan School of Medicine, Ann Arbor, Michigan, USA., Gandin I; Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy., Mezzavilla M; Genetica Medica, IRCCS Burlo Garofolo, Trieste, Italy.; Department of Experimental Genetics, Sidra, Doha, Qatar., Gilly A; Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK., Cocca M; Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy., Traglia M; Genetics and Cell Biology, San Raffaele Research Institute, Milan, Italy., Angius A; IRGB, CNR, Sardinia, Italy., Barrett JC; Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK., Boomsma D; Netherlands Twin Register, Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Branham K; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, USA., Breen G; MRC Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.; NIHR Biomedical Research Centre for Mental Health, Institute of Psychiatry, Psychology and Neuroscience, King's College London and the South London Maudsley Hospital, London, UK., Brummett CM; Department of Anesthesiology, University of Michigan, Ann Arbor, Michigan, USA., Busonero F; IRGB, CNR, Sardinia, Italy., Campbell H; Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, UK., Chan A; Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, UK.; Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA., Chen S; Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.; Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.; Department of Computational Medicine, University of Michigan, Ann Arbor, Michigan, USA.; Department of Bioinformatics, University of Michigan, Ann Arbor, Michigan, USA., Chew E; Division of Epidemiology and Clinical Applications, National Eye Institute, Bethesda, Maryland, USA., Collins FS; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA., Corbin LJ; MRC Integrative Epidemiology Unit, University of Bristol, Oakfield Grove, UK., Smith GD; MRC Integrative Epidemiology Unit, University of Bristol, Oakfield Grove, UK., Dedoussis G; Department of Nutrition and Dietetics, School of Health Science and Education, Harokopio University, Athens, Greece., Dorr M; Department of Internal Medicine B, University Medicine Greifswald, Greifswald, Germany.; Institute of Clinical Chemistry and Laboratory Medicine, University Medicine Greifswald, Greifswald, Germany., Farmaki AE; Department of Nutrition and Dietetics, School of Health Science and Education, Harokopio University, Athens, Greece., Ferrucci L; Longitudinal Studies Section, Clinical Research Branch, Gerontology Research Center, National Institute on Aging, Baltimore, Maryland, USA., Forer L; Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck, Austria., Fraser RM; Department of Anesthesiology, University of Michigan, Ann Arbor, Michigan, USA., Gabriel S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Levy S; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Groop L; Department of Clinical Sciences, Diabetes and Endocrinology, University of Lund, Malmö, Sweden.; Finnish Institute for Molecular Medicine, University of Helsinki, Helsinki, Finland.; Research Programs Unit, Diabetes and Obesity, University of Helsinki, Helsinki, Finland., Harrison T; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA., Hattersley A; Institute of Biomedical and Clinical Research, University of Exeter Medical School, Exeter, UK., Holmen OL; Hunt Research Centre, Department of Public Health and General Practice, Norwegian University of Science and Technology, Levanger, Norway., Hveem K; Hunt Research Centre, Department of Public Health and General Practice, Norwegian University of Science and Technology, Levanger, Norway., Kretzler M; Department of Computational Medicine, University of Michigan, Ann Arbor, Michigan, USA.; Department of Bioinformatics, University of Michigan, Ann Arbor, Michigan, USA.; Department of Internal Medicine, University of Michigan School of Medicine, Ann Arbor, Michigan, USA., Lee JC; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.; Department of Medicine, University of Cambridge School of Clinical Medicine, Addenbrooke's Hospital, Cambridge, UK., McGue M; Department of Psychology, University of Minnesota, Minneapolis, Minnesota, USA., Meitinger T; Institute of Human Genetics, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany.; Institute of Human Genetics, Technische Universität München, Munich, Germany.; DZHK (German Centre for Cardiovascular Research), Partner Site Munich Heart Alliance, Munich, Germany., Melzer D; Epidemiology and Public Health, Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Min JL; MRC Integrative Epidemiology Unit, University of Bristol, Oakfield Grove, UK., Mohlke KL; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Vincent JB; Molecular Neuropsychiatry and Development Laboratory, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.; Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada., Nauck M; DZHK (German Centre for Cardiovascular Research), Greifswald, Germany.; Institute of Clinical Chemistry and Laboratory Medicine, University Medicine Greifswald, Greifswald, Germany., Nickerson D; Department of Genome Sciences, University of Washington, Seattle, Washington, USA., Palotie A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Institute for Molecular Medicine, FIMM, Helsinki, Finland.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Pato M; Department of Psychiatry, SUNY Downstate, Brooklyn, New York, USA., Pirastu N; Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy., McInnis M; Department of Psychiatry, University of Michigan, Ann Arbor, Michigan, USA., Richards JB; Department of Medicine, McGill University, Montreal, Quebec, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK., Sala C; Genetics and Cell Biology, San Raffaele Research Institute, Milan, Italy., Salomaa V; THL, Helsinki, Finland., Schlessinger D; National Institute on Aging, US National Institutes of Health, Baltimore, Maryland, USA., Schoenherr S; Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck, Austria., Slagboom PE; Molecular Epidemiology Section, Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, the Netherlands., Small K; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK., Spector T; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK., Stambolian D; Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Tuke M; Genetics of Complex Traits, Institute of Biomedical Science, University of Exeter Medical School, Exeter, UK., Tuomilehto J; Chronic Disease Prevention Unit, National Institute for Health and Welfare, Helsinki, Finland.; Dasman Diabetes Institute, Dasman, Kuwait.; Center for Vascular Prevention, Danube University Krems, Krems, Austria.; Diabetes Research Group, King Abdulaziz University, Jeddah, Saudi Arabia., Van den Berg LH; Department of Neurology and Neurosurgery, Brain Center Rudolf Magnus, Utrecht, the Netherlands., Van Rheenen W; Department of Neurology and Neurosurgery, Brain Center Rudolf Magnus, Utrecht, the Netherlands., Volker U; Institute of Clinical Chemistry and Laboratory Medicine, University Medicine Greifswald, Greifswald, Germany.; Interfaculty Institute for Genetics and Functional Genomics, University Medicine Greifswald, Greifswald, Germany., Wijmenga C; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Toniolo D; Genetics and Cell Biology, San Raffaele Research Institute, Milan, Italy., Zeggini E; Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK., Gasparini P; Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.; Department of Experimental Genetics, Sidra, Doha, Qatar., Sampson MG; Department of Pediatrics-Nephrology, University of Michigan School of Medicine, Ann Arbor, Michigan, USA., Wilson JF; Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, UK.; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK., Frayling T; Genetics of Complex Traits, Institute of Biomedical Science, University of Exeter Medical School, Exeter, UK., de Bakker PI; Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., Swertz MA; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.; University of Groningen, University Medical Center Groningen, Genomics Coordination Center, Groningen, the Netherlands., McCarroll S; Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.; Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts, USA., Kooperberg C; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA., Dekker A; Department of Neurology and Neurosurgery, Brain Center Rudolf Magnus, Utrecht, the Netherlands., Altshuler D; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Diabetes Research Center (Diabetes Unit), Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA.; Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.; Vertex Pharmaceuticals, Boston, Massachusetts, USA., Willer C; Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA.; Department of Computational Medicine, University of Michigan, Ann Arbor, Michigan, USA.; Department of Bioinformatics, University of Michigan, Ann Arbor, Michigan, USA., Iacono W; Department of Psychology, University of Minnesota, Minneapolis, Minnesota, USA., Ripatti S; Department of Public Health, University of Helsinki, Helsinki, Finland., Soranzo N; Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK.; Department of Haematology, University of Cambridge, Cambridge, UK.; NIHR Blood and Transplant Unit (BTRU) in Donor Health and Genomics, University of Cambridge, Cambridge, UK., Walter K; Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK., Swaroop A; Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA., Cucca F; IRGB, CNR, Sardinia, Italy., Anderson CA; Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK., Myers RM; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Boehnke M; Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.; Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA., McCarthy MI; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.; Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; Oxford NIHR Biomedical Research Centre, Churchill Hospital, Headington, Oxford, UK., Durbin R; Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK.
Jazyk: angličtina
Zdroj: Nature genetics [Nat Genet] 2016 Oct; Vol. 48 (10), pp. 1279-83. Date of Electronic Publication: 2016 Aug 22.
DOI: 10.1038/ng.3643
Abstrakt: 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.
Databáze: MEDLINE