ELIXIR-EXCELERATE D8.7: Options for sustainability of RD-Connect within the scope of ELIXIR

RD-Connect is an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. Among other, RD-Connect has built three integrated online systems open to the RD Community: Genome-Phenome Analysis Platform (GPAP), for analysis, interpretation and sharing of omics data, the Registry & Biobank Finder, a global directory of rare disease patient registries and biobank and Sample Catalogue, which helps researchers find rare biosamples stored in biobanks.

RD-Connect acknowledged early in its programme that it would be necessary to sustain these three main assets, among other, beyond the funding period of the project. For this reason, several initiatives were undertaken to ensure the sustainability of these resources. In many of those, BBMRI-ERIC and ELIXIR were invited to participate. The RD-Connect GPAP has been, and is, central to EXCELERATE WP8 developments, the ELIXIR Rare Disease Community and quite a few ELIXIR Implementation Studies. Since the RD-Connect project has been key for the EXCELERATE WP8, D8.7 has provided support to identify sustainability options for RD-Connect, within ELIXIR and beyond.

Most of the efforts have focused on the GPAP, and while basic operation funding are partially covered until 2023, EXCELERATE has helped to identify topics that need to be further developed to ensure long-term sustainability. Some of the topics identified include containerization of pipelines, running analysis on the cloud and federation of national/regional RD-Connect nodes while providing added value to data stored at the EGA. Altogether, this would provide a useful initial demonstrator for the MEGA+ and the 1M genomes declaration of the EU states.