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Commentary |

Genome-wide Association Studies and Human Disease:  From Trickle to Flood

Peter M. Visscher, PhD; Grant W. Montgomery, PhD
JAMA. 2009;302(18):2028-2029. doi:10.1001/jama.2009.1643.
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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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Figure. The Genome-wide Association Revolution: From Trickle to Flood
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SNPs indicates single-nucleotide polymorphisms.
Data are adapted from the National Human Genome Research Institute1 at http://www.genome.gov/gwastudies/.

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