EuroEPINOMICS family studies go whole genome

The EuroEPINOMICS live ticker. During the last ten months, the focus of the EuroEPINOMICS consortium on Rare Epilepsy Syndromes (RES) has been the trio analysis in patients with epileptic encephalopathies. The RES subproject also aims at analysing the genetics of rare familial epilepsies. There have been ongoing discussions about the best way to get the analysis started. Last week, we finally “sealed the deal” for whole genome analysis in RES families. The EuroEPINOMICS RES consortium will collaborate with the CoGIE partner Luxembourg Centre for Systems Biomedicine (LCSB), the Institute of Systems Biology, Seattle USA (ISB) and Complete Genomics to analyse whole genome data of families with Rare Epilepsy Syndromes with an expected capacity of 100 genomes. But why exactly are we thinking about trading exomes for whole genomes? Continue reading