Article
Human genes involved in copy number variation: mechanisms of origin, functional effects and implications for disease.
Cytogenetic and genome research - 1 Jan 2008
de Smith A J, Walters R G, Froguel P, Blakemore A I
Abstract excerpt
Copy number variants (CNVs) overlap over 7000 genes, many of which are pivotal in biological pathways. The implications of this are profound, with consequences for evolutionary studies, population genetics, gene function and human phenotype, including elucidation of genetic susceptibility to major common diseases, the heritability of which has thus far defied full explanation. Even though this research is still...
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