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 www.epilepsygenetics.net.
Please quote this blog (APA format) as
Helbig, I. Genome-wide CNV analysis in Autism. Retrieved [enter date], from http://www.euroepinomics.wordpress.com