publication . Article . Other literature type . 2010

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

Elizabeth T. Cirulli;
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  • Published: 01 Jun 2010 Journal: Nature Reviews Genetics, volume 11, pages 415-425 (issn: 1471-0056, eissn: 1471-0064, Copyright policy)
  • Publisher: Springer Science and Business Media LLC
Abstract
Genome-wide association studies have explained only a small fraction of the genetic basis of complex diseases. This Review argues that rare variants could have a substantial effect on genetic predisposition to common disease, and the authors outline discovery strategies based on whole-genome sequencing for identifying these genetic risk factors. 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 ...
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