Genome-wide CNV analysis in Autism

For the first time, the human genome is surveyed for rare variants associated with disease in an hypothesis-free manner, paving the way for genome-wide CNV association studies.

In addition to previously known genes, the authors identify CNVs associated with ubiquitin pathways.  Even though this paper carries the notion of “genome-wide investigation” in its title, this study was not about identifying common variants, but only rare-disease associated CNVs.


This 2009 blog post has been transferred to the EuroEPINOMICS blog from

Please quote this blog (APA format) as

Helbig, I. Genome-wide CNV analysis in Autism. Retrieved [enter date], from

Ingo Helbig

Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany

Facebook Twitter