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Genotype-To-Phenotype Databases: A Holistic Solution


The GEN2PHEN project aims to unify human and model organism genetic variation databases towards increasingly holistic views into Genotype-To-Phenotype (G2P) data, and to link this system into other biomedical knowledge sources via genome browser functionality. The project will establish the technological building-blocks needed for the evolution of today’s diverse G2P databases into a future seamless G2P biomedical knowledge environment. The project will then utilise these elements to construct an operational first-version of that knowledge environment, by the projects end. This will consist of a European-centred but globally-networked hierarchy of bioinformatics GRID-linked databases, tools and standards, all tied into the Ensembl genome browser. The project has the following specific objectives: 1) To analyse the G2P field and thus determine emerging needs and practices; 2) To develop key standards for the G2P database field; 3) To create generic database components, services, and integration infrastructures for the G2P database domain; 4) To create search modalities and data presentation solutions for G2P knowledge; 5) To facilitate the process of populating G2P databases; 6) To build a major G2P internet portal; 7) To deploy GEN2PHEN solutions to the community; 8) To address system durability and long-term financing; 9) To undertake a whole-system utility and validation pilot study GEN2PHEN Consortium members have been selected from a talented pool of European research groups and companies that are interested in the G2P database challenge. Additionally, a few non-EU participants have been included to bring extra capabilities to the initiative. The final constellation is characterised by broad and proven competence, a network of established working relationships, and high-level roles/connections within other significant projects in this domain.

Call for proposal

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EU contribution
€ 2 685 819,72
LE1 7RH Leicester
United Kingdom

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East Midlands (England) Leicestershire, Rutland and Northamptonshire Leicester
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Marie Adams (Ms.)
Total cost
No data

Participants (22)