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Genome-wide association studies have identified hundreds of genetic variants associated with complex human diseases and traits, and have provided valuable insights into their genetic architecture. Most variants identified so far confer relatively small increments in risk, and explain only a small proportion of familial clustering, leading many to question how the remaining, 'missing' heritability can be explained. Here we examine potential sources of missing heritability and propose research strategies, including and extending beyond current genome-wide association approaches, to illuminate the genetics of complex diseases and enhance its potential to enable effective disease prevention or treatment.

Original publication

DOI

10.1038/nature08494

Type

Journal article

Journal

Nature

Publication Date

08/10/2009

Volume

461

Pages

747 - 753

Keywords

Genetic Diseases, Inborn, Genetic Predisposition to Disease, Genetics, Medical, Genome-Wide Association Study, Humans, Inheritance Patterns, Pedigree