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Voight, B.F.* ; Kang, H.M.* ; Ding, J.* ; Palmer, C.D.* ; Sidore, C.* ; Chines, P.S.* ; Burtt, N.P.* ; Fuchsberger, C.* ; Li, Y.M.* ; Erdmann, J.* ; Frayling, T.M.* ; Heid, I.M. ; Jackson, A.U.* ; Johnson, T.* ; Kilpeläinen, T.O.* ; Lindgren, C.M.* ; Morris, A.P.* ; Prokopenko, I.* ; Randall, J.C.* ; Saxena, R.* ; Soranzo, N.* ; Speliotes, E.K.* ; Teslovich, T.M.* ; Wheeler, E.* ; Maguire, J.* ; Parkin, M.* ; Potter, S.* ; Rayner, N.W.* ; Robertson, N.* ; Stirrups, K.* ; Winckler, W.* ; Sanna, S.* ; Mulas, A.* ; Nagaraja, R.* ; Cucca, F.* ; Barroso, I.* ; Deloukas, P.* ; Loos, R.J.F.* ; Kathiresan, S.* ; Munroe, P.B.* ; Newton-Cheh, C.* ; Pfeufer, A. ; Samani, N.J.* ; Schunkert, H.* ; Hirschhorn, J.N.* ; Altshuler, D.* ; McCarthy, M.I.* ; Abecasis, G.R.* ; Boehnke, M.*

The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits.

PLoS Genet. 8:e1002793 (2012)
Publ. Version/Full Text Volltext DOI PMC
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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.
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Publication type Article: Journal article
Document type Scientific Article
Keywords GENOME-WIDE ASSOCIATION; CORONARY-ARTERY-DISEASE; QT INTERVAL DURATION; COMMON VARIANTS; SUSCEPTIBILITY LOCI; IDENTIFIES 13; HUMAN HEIGHT; RISK; METAANALYSIS; POPULATION
Language english
Publication Year 2012
HGF-reported in Year 2012
ISSN (print) / ISBN 1553-7390
e-ISSN 1553-7404
Journal PLoS Genetics
Quellenangaben Volume: 8, Issue: 8, Pages: , Article Number: e1002793 Supplement: ,
Publisher Public Library of Science (PLoS)
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
Institute of Genetic Epidemiology (IGE)
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500700-001
G-504100-001
PubMed ID 22876189
DOI 10.1371/journal.pgen.1002793
WOS ID WOS:000308529300001
Scopus ID 84865693681
Erfassungsdatum 2012-10-26
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