The impact of human copy number variation on gene expression

Eric R. Gamazon, Barbara Elaine Stranger*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

87 Scopus citations


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 linked to complex traits in humans, including disease and drug response. These recent developments underscore the importance of incorporating complex forms of genetic variation into disease mapping studies and promise to transform our understanding of genome function and the genetic basis of disease. Here we review some of the findings that have emerged from transcriptome studies of CNVs facilitated by the rapid advances in -omics technologies and corresponding methodologies.

Original languageEnglish (US)
Article numberelv017
Pages (from-to)352-357
Number of pages6
JournalBriefings in Functional Genomics
Issue number5
StatePublished - Sep 1 2015


  • Copy number variation
  • GWAS
  • Gene expression
  • Transcriptome
  • eQTLs

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology
  • Biochemistry


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