21/06/2013 - 12:00 - Sala Marie Curie

Decoding structural variation in genomes

Scientific sessions, PRBB CRG Conferences

Edwin Cuppen

Hubrecht Institute and Deparment of Medical Genetics, University Medical Center Utrecht. Utrecht, The Netherlands

Edwin Cuppen, from the Hubrecht Institute and Deparment of Medical Genetics at the University Medical Center Utrecht in The Netherlands, combines experimental methods, including next-generation sequencing technology and animal model studies, with bioinformatic approaches to identify functional elements in genomes and to understand the effects of genetic variation under normal and disease conditions.His group has specialized in studying genomic structural variation and they are using NGS-based techniques like (small) RNA sequencing, ChIP-Seq, and 4C-seq to detect molecular consequences and dissect underlying biological mechanisms. Furthermore, he is involved in implementing NGS approaches for diagnostic purposes in clinical genetics and personalized cancer treatment.He has been invited by Anna Houben (CRG).