The objectives of this axis are to propose high-throughput whole-genome sequencing (WGS) as the first-line test for the diagnosis of rare diseases and for screening for genetic predispositions to cancers in very high risk populations (unusually young patients) with a negative routine gene-panel analysis. This strategy is based on the experience with WES of two already-operational teams of the Institute. In parallel, the teams will evaluate the impact of molecular diagnosis on the management of patients. We will test the contribution of WGS compared with WES for personalized medicine.
This project will make it possible to implement a technology transfer from WES to WGS and other omics and is an integral part of the France Genomic medicine plan for 2015.
