GEN2PHEN

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, 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:

To analyse the G2P field and thus determine emerging needs and practices
To develop key standards for the G2P database field
To create generic database components, services and integration infrastructures for the G2P database domain
To create search modalities and data presentation solutions for G2P knowledge
To facilitate the process of populating G2P databases
To build a major G2P internet portal
To deploy GEN2PHEN solutions to the community
To address system durability and long-term financing
To undertake a whole-system utility and validation pilot study
The 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.