Access to Data & Resources

The overall objectives of this WP are to build a comprehensive, FAIR-compliant virtual platform describing resources (including registries, biobanks, research infrastructures, genome-phenome repositories, methods, standards, etc) allowing for these resources to be findable online via a central access point to provide researchers the means to deposit, share and analyse phenotypic, genomic and multi-omics data building on and scaling up existing resources.

We will build on and scale up existing catalogs (i.e. Orphanet, BBMRI, RD-Connect Biobank and Registry Finder, JRC’s ERDRI and ELIXIR bio.tools) to develop a comprehensive suite of catalogs using standardized metadata and utilizing existing recommended ontologies (i.e. Orphanet rare disease ontology (ORDO), Human Phenotype Ontology (HPO)). It will allow registries, biobanks, data repositories, and other resources and tools to be findable by queries in terms of disease, genes, phenotypes, sample types, and other data element types. This centralized metadata system will be FAIR compliant.

Furthermore, we will improve, adapt, scale up and document existing RD data deposition and analysis resources (such as the RD-Connect GPAP and Sample Catalogue, DECIPHER, INFRAFRONTIER, hPSCreg, Cellosaurus, EGA, Metabolights or Pride), and make them findable through the EJP virtual platform, to serve researchers’ deposition and analysis needs (i.e. for the projects funded in Pillar 1). Access will be simplified by adopting a common Authentication and Authorization Infrastructure (AAI), and a system to link anonymised data from the same patient in different projects will be deployed via Privacy Preserving Record Linkage (PPRL). Functionality of resources will be expanded by improving their usability. Additional experimental data issued from x-omics workpackage will be included.