Format

Send to

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

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

Author information

1
Department of Biostatistics, Harvard School of Public Health, 655 Huntington Avenue, Boston, MA 02115, USA.

Abstract

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.

PMID:
18822366
PMCID:
PMC2631358
DOI:
10.1016/j.ygeno.2008.08.012
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Elsevier Science Icon for PubMed Central
Loading ...
Support Center