Article
Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish.
Disease models & mechanisms - 1 Mar 2013
Doelken Sandra C, Köhler Sebastian, Mungall Christopher J, Gkoutos Georgios V, Ruef Barbara J, Smith Cynthia, Smedley Damian, Bauer Sebastian, Klopocki Eva, Schofield Paul N, Westerfield Monte, Robinson Peter N, Lewis Suzanna E
Abstract excerpt
Numerous disease syndromes are associated with regions of copy number variation (CNV) in the human genome and, in most cases, the pathogenicity of the CNV is thought to be related to altered dosage of the genes contained within the affected segment. However, establishing the contribution of individual genes to the overall pathogenicity of CNV syndromes is difficult and often relies on the identification of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.