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

• Main Authors: Sandra C. Doelken (Author), Sebastian Köhler (Author), Christopher J. Mungall (Author), Georgios V. Gkoutos (Author), Barbara J. Ruef (Author), Cynthia Smith (Author), Damian Smedley (Author), Sebastian Bauer (Author), Eva Klopocki (Author), Paul N. Schofield (Author), Monte Westerfield (Author), Peter N. Robinson (Author), Suzanna E. Lewis (Author)
• Format: Book
• Published: The Company of Biologists, 2013-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

SUMMARY 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...