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Nat Rev Genet. 2010 Jun;11(6):415-25. doi: 10.1038/nrg2779.

Uncovering the roles of rare variants in common disease through whole-genome sequencing.

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  • 1Center for Human Genome Variation, Duke University Medical School, Durham, North Carolina 27708, USA.


Although genome-wide association (GWA) studies for common variants have thus far succeeded in explaining only a modest fraction of the genetic components of human common diseases, recent advances in next-generation sequencing technologies could rapidly facilitate substantial progress. This outcome is expected if much of the missing genetic control is due to gene variants that are too rare to be picked up by GWA studies and have relatively large effects on risk. Here, we evaluate the evidence for an important role of rare gene variants of major effect in common diseases and outline discovery strategies for their identification.

[PubMed - indexed for MEDLINE]
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