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Genome-wide association studies and genetic architecture of common human diseases.


ABSTRACT: Genome-wide association scans provide the first successful method to identify genetic variation contributing to risk for common complex disease. Progress in identifying genes associated with melanoma show complex relationships between genes for pigmentation and the development of melanoma. Novel risk loci account for only a small fraction of the genetic variation contributing to this and many other diseases. Large meta-analyses find additional variants, but there is current debate about the contribution of common polymorphisms, rare polymorphisms or mutations to disease risk.

SUBMITTER: Montgomery GW 

PROVIDER: S-EPMC3108210 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature

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Genome-wide association studies and genetic architecture of common human diseases.

Montgomery Grant W GW  

BMC proceedings 20110603


Genome-wide association scans provide the first successful method to identify genetic variation contributing to risk for common complex disease. Progress in identifying genes associated with melanoma show complex relationships between genes for pigmentation and the development of melanoma. Novel risk loci account for only a small fraction of the genetic variation contributing to this and many other diseases. Large meta-analyses find additional variants, but there is current debate about the cont  ...[more]

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