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July 07 2016

Call for projects on Rare Diseases for Whole Exome Sequencing – BBMRI- LPC


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.

Link for submission  – The deadline for submission is on July 25th 2016

Find more information HERE

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