Human genetic variation and its contribution to complex traits

doi:10.1038/nrg2554

Review

. 2009 Apr;10(4):241-51.

doi: 10.1038/nrg2554.

Human genetic variation and its contribution to complex traits

Kelly A Frazer¹, Sarah S Murray, Nicholas J Schork, Eric J Topol

Affiliations

PMID: 19293820
DOI: 10.1038/nrg2554

Review

Human genetic variation and its contribution to complex traits

Kelly A Frazer et al. Nat Rev Genet. 2009 Apr.

. 2009 Apr;10(4):241-51.

doi: 10.1038/nrg2554.

Authors

Kelly A Frazer¹, Sarah S Murray, Nicholas J Schork, Eric J Topol

Affiliation

¹ Scripps Genomic Medicine, Scripps Translational Science Institute and The Scripps Research Institute, La Jolla, California 92037, USA. kfrazer@scripps.edu

PMID: 19293820
DOI: 10.1038/nrg2554

Abstract

The last few years have seen extensive efforts to catalogue human genetic variation and correlate it with phenotypic differences. Most common SNPs have now been assessed in genome-wide studies for statistical associations with many complex traits, including many important common diseases. Although these studies have provided new biological insights, only a limited amount of the heritable component of any complex trait has been identified and it remains a challenge to elucidate the functional link between associated variants and phenotypic traits. Technological advances, such as the ability to detect rare and structural variants, and a clear understanding of the challenges in linking different types of variation with phenotype, will be essential for future progress.

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Comment in

Complex disease: Finding functions in the wilderness.
Skipper M. Skipper M. Nat Rev Genet. 2011 Mar;12(3):153. doi: 10.1038/nrg2962. Nat Rev Genet. 2011. PMID: 21331085 No abstract available.

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[1] Science. 2005 Apr 15;308(5720):385-9 - PubMed

[2] Science. 2005 Apr 15;308(5720):385-9 - PubMed

[3] Nature. 2008 Apr 17;452(7189):872-6 - PubMed

[4] Nature. 2008 Apr 17;452(7189):872-6 - PubMed

[5] Nat Genet. 2001 Mar;27(3):234-6 - PubMed

[6] Nat Genet. 2001 Mar;27(3):234-6 - PubMed

[7] Nature. 2008 Sep 11;455(7210):237-41 - PubMed

[8] Nature. 2008 Sep 11;455(7210):237-41 - PubMed

[9] Proc Natl Acad Sci U S A. 2008 Jun 10;105(23):8055-60 - PubMed

[10] Proc Natl Acad Sci U S A. 2008 Jun 10;105(23):8055-60 - PubMed

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Human genetic variation and its contribution to complex traits

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Human genetic variation and its contribution to complex traits

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