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PLoS Comput Biol. 2012;8(12):e1002822. doi: 10.1371/journal.pcbi.1002822. Epub 2012 Dec 27.

Chapter 11: Genome-wide association studies.

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  • 1Department of Biomedical Informatics, Center for Human Genetics Research, Vanderbilt University Medical School, Nashville, Tennessee, United States of America. william.s.bush@vanderbilt.edu

Abstract

Genome-wide association studies (GWAS) have evolved over the last ten years into a powerful tool for investigating the genetic architecture of human disease. In this work, we review the key concepts underlying GWAS, including the architecture of common diseases, the structure of common human genetic variation, technologies for capturing genetic information, study designs, and the statistical methods used for data analysis. We also look forward to the future beyond GWAS.

PMID:
23300413
[PubMed - indexed for MEDLINE]
PMCID:
PMC3531285
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