Objetivo
High-throughput next-generation DNA sequencing technologies allow investigators to sequence entire human genomes at an affordable price and within a short time frame. The correct interpretation, storage, and dissemination of the large amount of produced genomics data generate major challenges. Tackling these challenges requires extensive exchange of data, information and knowledge between medical scientists, sequencing centres, bioinformatics networks and industry at the European level. The GEUVADIS (genetic European variation in disease) Consortium aims at developing standards in quality control and assessment of sequence data, models for data storage, exchange and access, as well as standards for the handling, analysis and interpretation of sequencing data and other functional genomics datasets, standards for the biological and medical interpretation of sequence data and in particular rare variants for monogenic and common disorders, and finally standards for the ethics of phenotype prediction from sequence variation. The partners are all involved in international sequencing initiatives (1000 GP, ICGC), EU and other international projects (ENGAGE, GEN2PHEN, ENCODE, TECHGENE …), biobanking activities (BBMRI), data sharing initiatives (ELIXIR), and the European Sequencing and Genotyping Infrastructure (ESGI), ensuring tight collaborations. The Consortium will undertake pilot sequencing projects on selected samples from three medical fields (cardiovascular, neurological and metabolic), using RNA (RNASeq) and DNA (exonSeq) sequencing. The analysis of such samples will allow the consortium to set up standards in operating procedures and biological/medical interpretation of sequence data in relation to clinical phenotypes. The consortium will bring together the knowledge and resources on medical genome sequencing at a European level and allow researchers to develop and test new hypotheses on the genetic basis of disease.
Ámbito científico
Convocatoria de propuestas
FP7-HEALTH-2010-single-stage
Consulte otros proyectos de esta convocatoria
Régimen de financiación
CSA-CA - Coordination (or networking) actionsCoordinador
08003 Barcelona
España
Ver en el mapa
Participantes (16)
1211 Geneve
Ver en el mapa
85764 Neuherberg
Ver en el mapa
CB10 1SA SAFFRON WALDEN
Ver en el mapa
75015 PARIS 15
Ver en el mapa
80539 Munchen
Ver en el mapa
08028 Barcelona
Ver en el mapa
751 05 Uppsala
Ver en el mapa
24118 Kiel
Ver en el mapa
6525 XZ Nijmegen
Ver en el mapa
2333 ZA Leiden
Ver en el mapa
15782 Santiago De Compostela
Ver en el mapa
69117 Heidelberg
Ver en el mapa
75654 Paris
Ver en el mapa
64293 Darmstadt
Ver en el mapa
CB21 6DF Great Abington
Ver en el mapa
21218 Baltimore
Ver en el mapa