Publication Date:
2009-10-09
Description:
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.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2831613/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉 〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2831613/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Manolio, Teri A -- Collins, Francis S -- Cox, Nancy J -- Goldstein, David B -- Hindorff, Lucia A -- Hunter, David J -- McCarthy, Mark I -- Ramos, Erin M -- Cardon, Lon R -- Chakravarti, Aravinda -- Cho, Judy H -- Guttmacher, Alan E -- Kong, Augustine -- Kruglyak, Leonid -- Mardis, Elaine -- Rotimi, Charles N -- Slatkin, Montgomery -- Valle, David -- Whittemore, Alice S -- Boehnke, Michael -- Clark, Andrew G -- Eichler, Evan E -- Gibson, Greg -- Haines, Jonathan L -- Mackay, Trudy F C -- McCarroll, Steven A -- Visscher, Peter M -- P50 GM065509/GM/NIGMS NIH HHS/ -- P50 GM065509-080006/GM/NIGMS NIH HHS/ -- R01 HG003229/HG/NHGRI NIH HHS/ -- R01 HL072904/HL/NHLBI NIH HHS/ -- R01 HL072904-07/HL/NHLBI NIH HHS/ -- R01 MH084695/MH/NIMH NIH HHS/ -- U01 HL084706/HL/NHLBI NIH HHS/ -- UL1 RR024992/RR/NCRR NIH HHS/ -- England -- Nature. 2009 Oct 8;461(7265):747-53. doi: 10.1038/nature08494.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉National Human Genome Research Institute, Building 31, Room 4B09, 31 Center Drive, MSC 2152, Bethesda, Maryland 20892-2152, USA. manoliot@mail.nih.gov〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/19812666" target="_blank"〉PubMed〈/a〉
Keywords:
Genetic Diseases, Inborn/*genetics
;
Genetic Predisposition to Disease/*genetics
;
Genetics, Medical/*methods/trends
;
Genome-Wide Association Study/methods/trends
;
Humans
;
Inheritance Patterns/genetics
;
Pedigree
Print ISSN:
0028-0836
Electronic ISSN:
1476-4687
Topics:
Biology
,
Chemistry and Pharmacology
,
Medicine
,
Natural Sciences in General
,
Physics
