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Article

Epistatic selection between coding and regulatory variation in human evolution and disease.

American journal of human genetics - 9 Sept 2011

Lappalainen Tuuli, Montgomery Stephen B, Nica Alexandra C, Dermitzakis Emmanouil T

Abstract excerpt

Interaction (nonadditive effects) between genetic variants has been highlighted as an important mechanism underlying phenotypic variation, but the discovery of genetic interactions in humans has proved difficult. In this study, we show that the spectrum of variation in the human genome has been shaped by modifier effects of cis-regulatory variation on the functional impact of putatively deleterious protein-coding...

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Identifiers

PMID: 21907014
DOI: 10.1016/j.ajhg.2011.08.004
PMCID: PMC3169828

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