RD-Connect (www.rd-connect.eu) has played a key role in establishing the ELIXIR Rare Disease Community, providing expertise and infrastructural components such as the Registry & Biobank Finder, FAIR ‘at source’ for registries and biobanks, and the RD-Connect Genome-Phenome Analysis Platform (GPAP).
This webinar focused on the RD-Connect Genome-Phenome Analysis Platform (GPAP). The GPAP is an IRDiRC Recognized Resource that facilitates diagnosis and gene discovery for registered users. Over 4000 genome-phenome datasets are already available in the RD-Connect GPAP for analysis and sharing. 19.000 additional WES and WGS are expected by 2022 through collaborations with international projects such as Solve-RD and the The European Joint Programme on Rare Diseases (EJP-RD).
The webinar also included a short demo of the RD-Connect GPAP, highlighting some of the integrated ELIXIR resources.
The recordings will be available soon!
See also: Rare Diseases Use Case