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Article

The impact of human copy number variation on gene expression.

Briefings in functional genomics - 1 Sept 2015

Gamazon Eric R, Stranger Barbara E

Abstract excerpt

Recent years have witnessed a flurry of important technological and methodological developments in the discovery and analysis of copy number variations (CNVs), which are increasingly enabling the systematic evaluation of their impact on a broad range of phenotypes from molecular-level (intermediate) traits to higher-order clinical phenotypes. Like single nucleotide variants in the human genome, CNVs have been...

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PMID: 25922366
DOI: 10.1093/bfgp/elv017
PMCID: PMC4592354

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