Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis

Genomics. 2009 Jan;93(1):22-6. doi: 10.1016/j.ygeno.2008.08.012. Epub 2008 Oct 19.


Structural genetic variation, including copy-number variation (CNV), constitutes a substantial fraction of total genetic variability and the importance of structural genetic variants in modulating human disease is increasingly being recognized. Early successes in identifying disease-associated CNVs via a candidate gene approach mandate that future disease association studies need to include structural genetic variation. Such analyses should not rely on previously developed methodologies that were designed to evaluate single nucleotide polymorphisms (SNPs). Instead, development of novel technical, statistical, and epidemiologic methods will be necessary to optimally capture this newly-appreciated form of genetic variation in a meaningful manner.

Publication types

  • Review

MeSH terms

  • Gene Dosage / genetics*
  • Genetic Predisposition to Disease
  • Genetic Variation*
  • Genome, Human / genetics*
  • Genome-Wide Association Study*
  • Humans