Journal
GENOMICS
Volume 93, Issue 1, Pages 22-26Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ygeno.2008.08.012
Keywords
Copy-number variation; CNV; Structural genetic variation; Disease association study; Complex trait
Funding
- NCI NIH HHS [R01 CA111560, R01 CA111560-04] Funding Source: Medline
- NHGRI NIH HHS [P41 HG004221, P41 HG004221-01] Funding Source: Medline
- NATIONAL CANCER INSTITUTE [R01CA111560] Funding Source: NIH RePORTER
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [P41HG004221] Funding Source: NIH RePORTER
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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. (C) 2008 Elsevier Inc. All rights reserved.
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