Journal
NATURE
Volume 461, Issue 7265, Pages 747-753Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nature08494
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Funding
- NCRR NIH HHS [UL1 RR024992] Funding Source: Medline
- NHGRI NIH HHS [R01 HG003229] Funding Source: Medline
- NHLBI NIH HHS [U01 HL084706, R01 HL072904, R01 HL072904-07] Funding Source: Medline
- NIGMS NIH HHS [P50 GM065509, P50 GM065509-080006] Funding Source: Medline
- NIMH NIH HHS [R01 MH084695] Funding Source: Medline
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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.
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