Voight, Benjamin F. and Kang, Hyun Min and Ding, Jun and Palmer, Cameron D. and Sidore, Carlo and Chines, Peter S. and Burtt, Noel P. and Fuchsberger, Christian and Li, Yanming and Erdmann, Jeanette and Frayling, Timothy M. and Heid, Iris M. and Jackson, Anne U. and Johnson, Toby and Kilpelaeinen, Tuomas O. and Lindgren, Cecilia M. and Morris, Andrew P. and Prokopenko, Inga and Randall, Joshua C. and Saxena, Richa and Soranzo, Nicole and Speliotes, Elizabeth K. and Teslovich, Tanya M. and Wheeler, Eleanor and Maguire, Jared and Parkin, Melissa and Potter, Simon and Rayner, N. William and Robertson, Neil and Stirrups, Kathleen and Winckler, Wendy and Sanna, Serena and Mulas, Antonella and Nagaraja, Ramaiah and Cucca, Francesco and Barroso, Ines and Deloukas, Panos and Loos, Ruth J. F. and Kathiresan, Sekar and Munroe, Patricia B. and Newton-Cheh, Christopher and Pfeufer, Arne and Samani, Nilesh J. and Schunkert, Heribert and Hirschhorn, Joel N. and Altshuler, David and McCarthy, Mark I. and Abecasis, Goncalo R. and Boehnke, Michael (2012) The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits. PLOS GENETICS, 8 (8): e1002793. ISSN 1553-7404,
Full text not available from this repository. (Request a copy)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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | GENOME-WIDE ASSOCIATION; CORONARY-ARTERY-DISEASE; QT INTERVAL DURATION; COMMON VARIANTS; SUSCEPTIBILITY LOCI; HAPLOTYPE MAP; IDENTIFIES 13; HUMAN HEIGHT; RISK; METAANALYSIS; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Institut für Epidemiologie und Präventivmedizin |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 11 May 2020 08:13 |
| Last Modified: | 11 May 2020 08:13 |
| URI: | https://pred.uni-regensburg.de/id/eprint/18333 |
Actions (login required)
 |
View Item |
