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The road to genome-wide association studies

Nature Reviews Genetics volume 9, pages 314–318 (2008)Cite this article

Abstract

The recent crop of results from genome-wide association studies might seem like a sudden development. However, this blooming follows a long germination period during which the necessary concepts, resources and techniques were developed and assembled. Here, I look back at how the necessary pieces fell into place, focusing on the less well-chronicled days before the launch of the HapMap project, and speculate about future developments.

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Figure 1: Linkage disequilibrium around an ancestral mutation.
Figure 2: Alternative designs for genome-wide association studies.
Figure 3: Schematic of a genomic region to be tested for association with a phenotype.

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Acknowledgements

I thank many colleagues over the years, the participants at the 2007 Banbury Center Meeting “From Statistics To Genes: Figuring Out the Molecular Basis of Complex Traits”, D. Altshuler for discussions, and D. Botstein, A. Chakravarti, B. Coller, D. Goldstein and L. Rosenberg for comments on the manuscript. I regret that space constraints prevented me from citing other important work in the field. Supported by a MERIT award from the National Institutes of Health (R37 MH059520) and a James S. McDonnell Centennial Fellowship in Human Genetics.

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  1. Leonid Kruglyak is at the Lewis-Sigler Institute for Integrative Genomics and the Department of Ecology and Evolutionary Biology, Princeton University, Princeton, New Jersey 08544, USA. leonid@genomics.princeton.edu,

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benign recurrent intrahepatic cholestasis (BRIC)

Hirschsprung disease

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Kruglyak, L. The road to genome-wide association studies. Nat Rev Genet 9, 314–318 (2008). https://doi.org/10.1038/nrg2316

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