Key Facts


Genetic European Variation in Disease

Sharing capacity across Europe in high-throughput sequencing technology to explore genetic variation in health and disease


Funded by: European Commission 7th framework programme

Funding scheme: Coordination and Support Action

Start date: 1st October 2010

Duration: 3 years

Coordinator: X. Estivill Center for Genomic Regulation, Barcelona

Integrating multiple data to better understand disease

GEUVADIS : Genetic European Variation in Disease

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.

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 Consortium aims at developing standards in:


- Quality control/assessment of sequence data
- Data storage/exchange/access
- Handling/analysis/interpretation of sequence data
- Biological/medical interpretation of sequence data
- Ethics of phenotype prediction from sequence variation


The Consortium will undertake pilot sequencing projects on selected samples from the medical field, 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.

Challenges, objectives and approach