When mutations are outside genes: a crime story

CSI Genetics. A headline in the recent issue of Nature Genetics caught my eye the other day: “Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication […]”. Two thoughts went through my head when I read this headline. First, I was wondering how the authors actually found this upstream duplication (one of the last things you look for). Secondly, I realised that demonstrating causality of this duplication must have been very, very difficult. In fact, the paper by Jaeger and colleagues reads like a good detective story and tells several lessons that might apply to EuroEPINOMICSContinue reading