Relative impact of nucleotide and copy number variation on gene phenotypes

Barbara Elaine Stranger, Matthew S. Forrest, Mark Dunning, Catherine E. Ingle, Claude Beazlsy, Natalie Thorne, Richard Redon, Christine P. Bird, Anna De Grassi, Charles Lee, Chris Tyler-Smith, Nigel Carter, Stephen W. Scherer, Simon Tavaré, Panagiotis Deloukas, Matthew E. Hurles*, Emmanouil T. Dermitzakis

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1252 Scopus citations


Extensive studies are currently being performed to associate disease susceptibility with one form of genetic variation, namely, single-nucleotide polymorphisms (SNPs). In recent years, another type of common genetic variation has been characterized, namely, structural variation, including copy number variants (CNVs). To determine the overall contribution of CNVs to complex phenotypes, we have performed association analyses of expression levels of 14,925 transcripts with 5NPs and CNVs in individuals who are part of the International HapMap project. SNPs and CNVs captured 83.6% and 17.7% of the total detected genetic variation in gene expression, respectively, but the signals from the two types of variation had little overlap. Interrogation of the genome for both types of variants may be an effective way to elucidate the causes of complex phenotypes and disease in humans.

Original languageEnglish (US)
Pages (from-to)848-853
Number of pages6
Issue number5813
StatePublished - Feb 9 2007

ASJC Scopus subject areas

  • General

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