BBMRI–LPC offers the opportunity to genetically diagnose rare disease patients with samples from the EuroBioBank network. The sequencing and analysis will be carried out at CNAG and WTSI

BBMRI- LPC (Biobanking and Biomolecular Resources Research Infrastructure – Large Prospective Cohorts) is one of the largest biobanking networks in Europe aiming to facilitate scientists’ access to large prospective study sets on human health and disease. 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 CNAG-CRG and at the Wellcome Trust Sanger Institute (WTSI).

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.

Read the Guidelines here

Link to the Submission form here

Estimated schedule

Project submission deadline: *July 25th 2016

Review Process deadline: *August 31st 2016

Sample Submission deadline: *September 30th 2016

*Official call pending of EU final approval.

In case you need further information please send an email to info@cnag.crg.eu