Review
Nature Reviews Genetics 6, 109-118 (February 2005) | doi:10.1038/nrg1522
Genome-wide association studies: theoretical and practical concerns
William Y. S. Wang1,2, Bryan J. Barratt1,3, David G. Clayton1 & John A. Todd1 About the authors
Abstract
To fully understand the allelic variation that underlies common diseases, complete genome sequencing for many individuals with and without disease is required. This is still not technically feasible. However, recently it has become possible to carry out partial surveys of the genome by genotyping large numbers of common SNPs in genome-wide association studies. Here, we outline the main factors — including models of the allelic architecture of common diseases, sample size, map density and sample-collection biases — that need to be taken into account in order to optimize the cost efficiency of identifying genuine disease-susceptibility loci.
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Author affiliations
- Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 2XY, UK.
- Basic and Clinical Genomics Laboratory, School of Medical Sciences and Institute for Biomedical Research, University of Sydney, NSW 2006, Australia.
- Research and Development Genetics, AstraZeneca, Alderley Park, Macclesfield, Cheshire SK10 4TG, UK.
Correspondence to: John A. Todd1 Email: john.todd@cimr.cam.ac.uk
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