Article
Genomic copy number variation, human health, and disease.
Lancet (London, England) - 25 Jul 2009
Wain Louise V, Armour John A L, Tobin Martin D
Abstract excerpt
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...
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