This Study will build on recent developments across the RD community by aligning and securely interconnecting existing international infrastructures (RD-Connect, European Genome-phenome Archive (EGA), and tranSMART) with the general ELIXIR infrastructure. Tasks will develop upon services provided by ELIXIR Nodes and international standards such as those from the Global Alliance for Genomics and Health (GA4GH).
This proposal will also build on the FAIR metrics described by Wilkinson et al. to establish a framework for RD data FAIRification by providing RD-specific recommendations and FAIRness scores. This framework will be evaluated through the FAIRNess estimation of different key RD resources such as Orphanet and the RD-Connect platform. Once defined, the RD-adapted FAIR metrics will be prepared for IRDiRC recognition to serve the entire RD community.
The Study will develop further a number of recent Implementation Studies:
- Interpretation of phenotypic and genotypic variation for rare diseases in terms of biological pathways
- Rare Disease test case for ELIXIR Interoperability backbone
- Visualization of aligned genomics data for rare diseases
During 2019-21, this project will provide foundational infrastructure building blocks for the RD community, building on ELIXIR-supporting infrastructure and objectives:
- Data analysis
- Ensuring that data are findable, accessible, interoperable and reusable for humans and machines (FAIR)