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Title: Genomic copy number variation, human health, and disease
Authors: Wain, Louise V.
Armour, John A. L.
Tobin, Martin D.
First Published: Jul-2009
Publisher: Elsevier
Citation: The Lancet, 2009, 374 (9686), pp. 340-350.
Abstract: Despite the long recognised effects of chromosomal structural abnormalities and completion of the Human Genome Project, much of the structural variation in the genome has gone unrecognised until recently. Deletions and duplications of DNA strands of between a few hundred bp and several million bp—collectively referred to as copy number variants—are now known to be widespread. Since 2007, rigorous and adequately powered genome-wide association studies based on single nucleotide polymorphisms have yielded replicated associations to several common diseases. Some copy number variants explain rare, previously uncharacterised disorders, and they are now expected to explain some of the genetic contribution to common diseases. We review efforts to map copy number variants and discuss present and future prospects for assessment of their relation to human health and disease.
DOI Link: 10.1016/S0140-6736(09)60249-X
ISSN: 0140-6736
Type: Article
Rights: This is the author's final draft of the paper published as The Lancet, 2009, 374 (9686), pp. 340-350. The final version is available from Doi: 10.1016/S0140-6736(09)60249-X
Appears in Collections:Published Articles, Dept. of Health Sciences
Published Articles, Dept. of Genetics

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