The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. (Articolo in rivista)

Type
Label
  • The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. (Articolo in rivista) (literal)
Anno
  • 2012-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1371/journal.pgen.1002793 (literal)
Alternative label
  • Voight BF, Kang HM, Ding J, Palmer CD, Sidore C, Chines PS, Burtt NP, Fuchsberger C, Li Y, Erdmann J, Frayling TM, Heid IM, Jackson AU, Johnson T, Kilpeläinen TO, Lindgren CM, Morris AP, Prokopenko I, Randall JC, Saxena R, Soranzo N, Speliotes EK, Teslovich TM, Wheeler E, Maguire J, Parkin M, Potter S, Rayner NW, Robertson N, Stirrups K, Winckler W, Sanna S, Mulas A, Nagaraja R, Cucca F, Barroso I, Deloukas P, Loos RJ, Kathiresan S, Munroe PB, Newton-Cheh C, Pfeufer A, Samani NJ, Schunkert H, Hirschhorn JN, Altshuler D, McCarthy MI, Abecasis GR, Boehnke M. (2012)
    The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits.
    in PLOS genetics (Online)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Voight BF, Kang HM, Ding J, Palmer CD, Sidore C, Chines PS, Burtt NP, Fuchsberger C, Li Y, Erdmann J, Frayling TM, Heid IM, Jackson AU, Johnson T, Kilpeläinen TO, Lindgren CM, Morris AP, Prokopenko I, Randall JC, Saxena R, Soranzo N, Speliotes EK, Teslovich TM, Wheeler E, Maguire J, Parkin M, Potter S, Rayner NW, Robertson N, Stirrups K, Winckler W, Sanna S, Mulas A, Nagaraja R, Cucca F, Barroso I, Deloukas P, Loos RJ, Kathiresan S, Munroe PB, Newton-Cheh C, Pfeufer A, Samani NJ, Schunkert H, Hirschhorn JN, Altshuler D, McCarthy MI, Abecasis GR, Boehnke M. (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1Medical Population Genetics, The Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, United States of America 2Department of Pharmacology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America 3Department of Biostatistics, Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, United States of America 4Laboratory of Genetics, National Institute on Aging, National Institutes of Health, Baltimore, Maryland, United States of America 5Divisions of Endocrinology and Genetics and Program in Genomics, Children's Hospital, Boston, Massachusetts, United States of America 6Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Italy 7Dipartimento di Scienze Biomediche, Università di Sassari, Sassari, Italy 8Genome Technology Branch, National Human Genome Research Institute, Bethesda, Maryland, United States of America 9Universität zu Lübeck, Medizinische Klinik II, and Nordic Center of Cardiovascular Research, Lübeck, Germany 10Genetics of Complex Traits, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, United Kingdom 11Department of Epidemiology and Preventive Medicine, University Hospital Regensburg, Regensburg, Germany 12Helmholtz Zentrum München--German Research Center for Environmental Health, Institute of Epidemiology, Neuherberg, Germany 13Clinical Pharmacology and Barts and the London Genome Centre, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, United Kingdom 14MRC Epidemiology Unit, Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, United Kingdom 15Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom 16Oxford Centre for Diabetes, Endocrinology, and Metabolism, Churchill Hospital, University of Oxford, Oxford, United Kingdom 17Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America 18Department of Anesthesia, Critical Care and Pain Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America 19Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom 20Department of Internal Medicine, Division of Gastroenterology and Center for Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, United States of America 21University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, United Kingdom 22Cardiovascular Research Center and Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts, United States of America 23Department of Medicine, Harvard Medical School, Boston, Massachusetts, United States of America 24Institute of Human Genetics, Klinikum Rechts der Isar Technische Universität München, Munich, Germany 25Institute of Human Genetics, Helmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt, Neuherberg, Germany 26EURAC Center of Biomedicine, Bolzano, Italy 27Department of Cardiovascular Sciences, Glenfield Hospital, University of Leicester, Leicester, United Kingdom 28Leicester NIHR Biomedical Research Unit in Coronary Artery Disease, Glenfield Hospital, Leicester, United Kingdom 29Department of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America 30Department of Molecular Biology, Harvard Medical School, Boston, Massachusetts, United States of America 31Diabetes Unit, Massachusetts General Hospital, Boston, Massachusetts, United States of America 32Oxford NIHR Biomedical Research Centre, Churchill Hospital, Oxford, United Kingdom Georgia Institute of Technology, United States of America (literal)
Titolo
  • The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. (literal)
Abstract
  • Genome-wide association studies have identified hundreds of loci for type 2 diabetes, coronary artery disease and myocardial infarction, as well as for related traits such as body mass index, glucose and insulin levels, lipid levels, and blood pressure. These studies also have pointed to thousands of loci with promising but not yet compelling association evidence. To establish association at additional loci and to characterize the genome-wide significant loci by fine-mapping, we designed the \"Metabochip,\" a custom genotyping array that assays nearly 200,000 SNP markers. Here, we describe the Metabochip and its component SNP sets, evaluate its performance in capturing variation across the allele-frequency spectrum, describe solutions to methodological challenges commonly encountered in its analysis, and evaluate its performance as a platform for genotype imputation. The metabochip achieves dramatic cost efficiencies compared to designing single-trait follow-up reagents, and provides the opportunity to compare results across a range of related traits. The metabochip and similar custom genotyping arrays offer a powerful and cost-effective approach to follow-up large-scale genotyping and sequencing studies and advance our understanding of the genetic basis of complex human diseases and traits. (literal)
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