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Open Access
Peer-reviewed
Research Article
Re-sequencing Expands Our Understanding of the Phenotypic Impact of Variants at GWAS Loci
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Susan K. Service ,
Contributed equally to this work with: Susan K. Service, Tanya M. Teslovich, Christian Fuchsberger
Affiliation Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, California, United States of America
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Tanya M. Teslovich ,
Contributed equally to this work with: Susan K. Service, Tanya M. Teslovich, Christian Fuchsberger
Affiliation Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, United States of America
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Christian Fuchsberger ,
Contributed equally to this work with: Susan K. Service, Tanya M. Teslovich, Christian Fuchsberger
Affiliation Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, United States of America
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Vasily Ramensky,
Affiliation Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, California, United States of America
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Pranav Yajnik,
Affiliation Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, United States of America
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Daniel C. Koboldt,
Affiliation The Genome Institute at Washington University, St. Louis, Missouri, United States of America
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David E. Larson,
Affiliation The Genome Institute at Washington University, St. Louis, Missouri, United States of America
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Qunyuan Zhang,
Affiliation The Genome Institute at Washington University, St. Louis, Missouri, United States of America
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Ling Lin,
Affiliation The Genome Institute at Washington University, St. Louis, Missouri, United States of America
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Ryan Welch,
Affiliation Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, United States of America
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Li Ding,
Affiliation The Genome Institute at Washington University, St. Louis, Missouri, United States of America
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Michael D. McLellan,
Affiliation The Genome Institute at Washington University, St. Louis, Missouri, United States of America
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Michele O'Laughlin,
Affiliation The Genome Institute at Washington University, St. Louis, Missouri, United States of America
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Catrina Fronick,
Affiliation The Genome Institute at Washington University, St. Louis, Missouri, United States of America
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Lucinda L. Fulton,
Affiliation The Genome Institute at Washington University, St. Louis, Missouri, United States of America
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Vincent Magrini,
Affiliation The Genome Institute at Washington University, St. Louis, Missouri, United States of America
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Amy Swift,
Affiliation Genome Technology Branch, National Human Genome Research Institute, Bethesda, Maryland, United States of America
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Paul Elliott,
Affiliations Department of Epidemiology and Biostatistics, MRC-PHE Centre for Environment and Health, School of Public Health, Imperial College London, London, United Kingdom, Faculty of Medicine, St Mary's Campus, Imperial College London, London, United Kingdom
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Marjo-Riitta Jarvelin,
Affiliations Department of Epidemiology and Biostatistics, MRC-PHE Centre for Environment and Health, School of Public Health, Imperial College London, London, United Kingdom, Institute of Health Sciences, University of Oulu, Oulu, Finland, Biocenter Oulu, University of Oulu, Oulu, Finland, Unit of Primary Care, Oulu University Hospital, Oulu, Finland, Department of Children and Young People and Families, National Institute for Health and Welfare, Oulu, Finland
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Marika Kaakinen,
Affiliations Department of Epidemiology and Biostatistics, MRC-PHE Centre for Environment and Health, School of Public Health, Imperial College London, London, United Kingdom, Institute of Health Sciences, University of Oulu, Oulu, Finland, Biocenter Oulu, University of Oulu, Oulu, Finland
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Mark I. McCarthy,
Affiliations Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Headington, Oxford, United Kingdom, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom, Oxford NIHR Biomedical Research Centre, Churchill Hospital, Headington, Oxford, United Kingdom
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Leena Peltonen †,
† Deceased.
Affiliations Institute for Molecular Medicine Finland, FIMM, University of Helsinki, Helsinki, Finland, The Program for Human and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America
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Anneli Pouta,
Affiliations Department of Children and Young People and Families, National Institute for Health and Welfare, Oulu, Finland, Institute of Clinical Medicine/Obstetrics and Gynecology, University of Oulu, Oulu, Finland
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Lori L. Bonnycastle,
Affiliation Genome Technology Branch, National Human Genome Research Institute, Bethesda, Maryland, United States of America
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Francis S. Collins,
Affiliation Genome Technology Branch, National Human Genome Research Institute, Bethesda, Maryland, United States of America
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Narisu Narisu,
Affiliation Genome Technology Branch, National Human Genome Research Institute, Bethesda, Maryland, United States of America
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Heather M. Stringham,
Affiliation Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, United States of America
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Jaakko Tuomilehto,
Affiliation Department of Children and Young People and Families, National Institute for Health and Welfare, Oulu, Finland
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Samuli Ripatti,
Affiliations Institute for Molecular Medicine Finland, FIMM, University of Helsinki, Helsinki, Finland, Hjelt Institute, University of Helsinki, Helsinki, Finland, Wellcome Trust Sanger Institute, Hinxton, United Kingdom
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Robert S. Fulton,
Affiliation The Genome Institute at Washington University, St. Louis, Missouri, United States of America
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Chiara Sabatti,
Affiliation Department of Health and Research Policy, Stanford University, Stanford, California, United States of America
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Richard K. Wilson ,
* E-mail: rwilson@wustl.edu (RKW); boenke@umich.edu (MB); nfreimer@mednet.ucla.edu (NBF)
Affiliation The Genome Institute at Washington University, St. Louis, Missouri, United States of America
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Michael Boehnke ,
* E-mail: rwilson@wustl.edu (RKW); boenke@umich.edu (MB); nfreimer@mednet.ucla.edu (NBF)
Affiliation Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, United States of America
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Nelson B. Freimer
* E-mail: rwilson@wustl.edu (RKW); boenke@umich.edu (MB); nfreimer@mednet.ucla.edu (NBF)
Affiliation Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, California, United States of America
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Re-sequencing Expands Our Understanding of the Phenotypic Impact of Variants at GWAS Loci
- Susan K. Service,
- Tanya M. Teslovich,
- Christian Fuchsberger,
- Vasily Ramensky,
- Pranav Yajnik,
- Daniel C. Koboldt,
- David E. Larson,
- Qunyuan Zhang,
- Ling Lin,
- Ryan Welch
- Published: January 30, 2014
- https://doi.org/10.1371/journal.pgen.1004147