This study is associated with the ongoing work of the Rare Disease Community.
Access to multiple biological and clinical resources without too many barriers is of critical importance in the rare diseases field. Because of the low frequency in the population, combining data across registries, biobanks, and -omics databases is the single most important way of finding materials and gaining new insights.
This Rare Disease project was a joint initiative of the EU-funded RD-CONNECT project, BBMRI-NL, BBMRI-ERIC and ELIXIR. Its aim was to create a federated infrastructure that will enable access to different rare disease repositories across Europe. ELIXIR's role was to test different technologies for the interoperability backbone, which will feed into the rare disease use case within ELIXIR-EXCELERATE.
The study has now finished, the details are set out in the end report.
Webinar summarising the outcomes
Other Implementation Studies:
- Visualization of aligned genomics data for rare diseases (2017)
- Interpretation of phenotypic and genotypic variation for rare diseases (2017)