Project Summary and Objectives
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.