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November 11, 2009

Genome-wide Association Studies and Human DiseaseFrom Trickle to Flood

Author Affiliations

Author Affiliations: Department of Statistical Genetics (Dr Visscher) and Department of Molecular Epidemiology (Dr Montgomery), Queensland Institute of Medical Research, Brisbane, Australia.

JAMA. 2009;302(18):2028-2029. doi:10.1001/jama.2009.1643

Many common complex diseases such as hypertension, diabetes, coronary heart disease, psychiatric disorders, and some cancers have a genetic etiology. Despite enormous efforts over the last few decades, little real progress was made in finding the genes and causal variants involved. Genome-wide association studies, in which hundreds of thousands of DNA markers are tested (usually in a case-control design) for association with disease, provide the first effective approach to search for genetic variants that contribute to the complex etiology of common human diseases.

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