- Tipo NewsBANDO
- FonteVarie - UE
- Del
The 2016 BBMRI – LPC Whole Exome Sequencing (WES) Call is offering a unique opportunity to genetically diagnose rare disease patients with samples deposited in Biobanks from the EuroBioBank network.
The program will provide free-of-charge Whole Exome Sequencing (WES) and bioinformatics analysis for a total of 500 samples, including rare disease patients and their relatives, from 10-30 coordinated projects.
The sequencing and analysis will be carried out at the Centro Nacional de Análisis Genómico (CNAG-CRG) and at the Wellcome Trust Sanger Institute (WTSI). CNAG-CRG is a genomics research platform based in Barcelona (Spain) that has the mission to carry out large scale projects in DNA sequencing and analysis in collaboration with researchers from Catalonia, Spain and from the international research community.
With this call, BBMRI-LPC wants to promote the utilization of cutting-edge next-generation sequencing technology for the identification of novel causative variants and genes and to molecularly diagnose rare disease patients. BBMRI-LPC also wants to promote biobanking for rare diseases, the use of rare diseases biobanks and responsible data sharing.
