Genotype-phenotype data ecosystem Over five years, an EU-funded project examined the genotype-phenotype (G2P) data field and enhanced it towards a unified, data-rich, multi-purpose knowledge ecosystem. Climate Change and Environment © Thinkstock The phenotype lies at the heart of genomic research. The 'Genotype-to-phenotype databases: A holistic solution' (GEN2PHEN) project has established all the technology necessary better integration, storage and access of G2P data from all independent sources in a holistic way. Additionally, efforts were linked to other biomedical knowledge domains via genome central database and browser functionality. Underlying the success of the project was the in-depth continual analysis of the field's needs and subsequent alignment of direction. Standards and policy developments covered a wide range of issues. These included ethical principles, data models, exchange formats and gene mutation nomenclature. The consortium has created modular and interoperable database and data management components, tools and services. Altogether several thousand new gene/disease specific databases and comprehensive genome wide association study databases have been created as well as several commercial systems and tools. Researchers and healthcare users can access the databases as a result of integration through web services with new data aggregation and discovery approaches. Community resources to facilitate and extend the use of the G2P system included training and support services and initiatives. This ensured platform effectiveness and system sustainability. One core result is a two-way internet-based exchange of information that is accessible at the web portal, G2P Knowledge Centre. Users can upload and download information, data and opinions. GEN2PHEN launched the 'OneSearch' system to allow users to search across the complete G2P public data domain. The recently upgraded site has more than 500 visitors a week and has successfully deployed GEN2PHEN solutions to the community. In summary, GEN2PHEN organised and innovatively enhanced the G2P data domain using a consolidation of community level efforts. The resulting system can further evolve and develop as new data and inputs become available. The project has effectively merged IT, research and healthcare to produce data that can be applied in the clinic. All key players will benefit including researchers and patients with genetic diseases, particularly those with rare disorders where data is difficult to collate. Keywords Genotype-phenotype, resource centre, holistic, database, healthcare, community, G2P knowledge centre, clinic
