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

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

Objective

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.
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Coordinator

FUNDACIO CENTRE DE REGULACIO GENOMICA

Address

Carrer Doctor Aiguader 88
08003 Barcelona

Spain

Activity type

Higher or Secondary Education Establishments

EU Contribution

€ 340 642

Administrative Contact

Michela Bertero (Dr.)

Participants (16)

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UNIVERSITE DE GENEVE

Switzerland

EU Contribution

€ 160 000

HELMHOLTZ ZENTRUM MUENCHEN DEUTSCHES FORSCHUNGSZENTRUM FUER GESUNDHEIT UND UMWELT GMBH

Germany

EU Contribution

€ 160 000

GENOME RESEARCH LIMITED

United Kingdom

EU Contribution

€ 100 000

COMMISSARIAT A L ENERGIE ATOMIQUE ET AUX ENERGIES ALTERNATIVES

France

EU Contribution

€ 100 000

MAX-PLANCK-GESELLSCHAFT ZUR FORDERUNG DER WISSENSCHAFTEN EV

Germany

EU Contribution

€ 100 000

FUNDACIO PARC CIENTIFIC DE BARCELONA

Spain

EU Contribution

€ 100 000

UPPSALA UNIVERSITET

Sweden

EU Contribution

€ 160 000

CHRISTIAN-ALBRECHTS-UNIVERSITAET ZU KIEL

Germany

EU Contribution

€ 100 000

STICHTING KATHOLIEKE UNIVERSITEIT

Netherlands

EU Contribution

€ 100 000

ACADEMISCH ZIEKENHUIS LEIDEN

Netherlands

EU Contribution

€ 160 000

UNIVERSIDAD DE SANTIAGO DE COMPOSTELA

Spain

EU Contribution

€ 100 000

EUROPEAN MOLECULAR BIOLOGY LABORATORY

Germany

EU Contribution

€ 174 358

INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE

France

EU Contribution

€ 100 000

LIFE TECHNOLOGIES GmbH

Germany

EU Contribution

€ 15 000

ILLUMINA CAMBRIDGE LTD

United Kingdom

EU Contribution

€ 15 000

JOHNS HOPKINS UNIVERSITY

United States

EU Contribution

€ 15 000

Project information

Grant agreement ID: 261123

Status

Closed project

  • Start date

    1 October 2010

  • End date

    31 December 2013

Funded under:

FP7-HEALTH

  • Overall budget:

    € 2 238 549,88

  • EU contribution

    € 2 000 000

Coordinated by:

FUNDACIO CENTRE DE REGULACIO GENOMICA

Spain