Nature Reviews GENETICS
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Solving the missing genes puzzle for complex diseases
DOI: 10.1038/nrg2779
DOI: 10.1038/nrg2809
Genome wide association studies dominate human genetic research today, but why have the variants identified explained so little of the heritability of common disorders such as diabetes and heart disease? Perhaps the expectation that the ‘easy’ targets would provide most of the answers was misguided, and new strategies are needed to solve this problem, suggest two articles in Nature Reviews Genetics.
In a Viewpoint article, seven leading geneticists offer their opinions on where these missing genetic factors may be found, and suggest that, although genome-wide association studies have identified some common variants that contribute to complex diseases, we now need to cast the net wider. In a Review article, David Goldstein and Liz Cirulli support that simple hypothesis that much of the genetic control of common disease may be due to rarer variants not easily detected by genome-wide association studies.
Both articles offer practical solutions. Goldstein and Cirulli argue that it is now feasible to use next-generation sequencing to sequence whole patient genomes, which would allow us to identify most variants in a disease genome, be they common or rare. In the Viewpoint article, the experts explain how various factors, including structural variants, epigenetic regulation and genetic interactions, could contribute to common human disease. Studying these aspects may require substantial technological advances and conceptual shifts but these difficulties need to be faced to realize the full potential of genomics for human disease.
Author contacts:
David B. Goldstein (Duke University Medical School, Durham, NC, USA)
Tel: +1 919 684 0896
E-mail: [email protected]
Suzanne M. Leal (Baylor College of Medicine, Houston, TX, USA)
Tel: +1 713 798 4011
E-mail: [email protected]
Jason H. Moore (Dartmouth Medical School, Lebanon, NH, USA)
Tel; +1 603 653 9939
E-mail: [email protected]
Joseph H. Nadeau
(Case Western Reserve University School of Medicine, Cleveland, OH, USA)
Tel: +1 216 368 0581
E-mail [email protected]
Editorial contacts:
Meera Swami (Associate Editor, Nature Reviews Genetics, London, UK)
Tel: +44 20 7843 4550
E-mail: [email protected]
Ruth Sorelle (Chief Science Editor, Baylor College of Medicine, Houston, TX, USA)
E-mail: [email protected]
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