GEUVADIS · Sharing capacity across Europe in high-throughput sequencing technology to explore genetic variation in health and 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 (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.