Large deletions and hotspots in human disease

This paper by Itsara et al. investigates the importance of large copy number variations in human population, showing that large deletions are generally rare and probably deleterious. A meta-analysis of published studies further highlights several genomic hotspots as candidate genes for human genomic disorders.


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

Please quote this blog (APA format) as

Helbig, I. Large deletions and hotspots in human disease. 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

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