The following deliverables and reports summarise the work performed by Solve-RD partners.
D4.3 Central RD-Connect database serving Solve-RD, including user authentication and authorization
Solve-RD will employ the RD-Connect Genome-phenome Analysis Platform (GPAP) to pool and enable controlled access to a large number of harmonised and integrated datasets from unsolved rare disease cases. This deliverable report describes the actions taken to ensure GPAP is serving Solve-RD, including steps for user authentication and authorization and how researchers can share their data.
D4.5 Metadata catalog operational, with initial content
In order for the resources that are contributed to and will be developed during the Solve-RD project a discovery system was required. Such a system is being developed based on proven technologies and a suitable set of standards. This deliverable focuses on the building of an initial version of the system, based on the Café Variome platform, for asset discovery called RD-NEXUS (Rare Disease Network for EXploring the UNseen). In order to build the system, a working data model for an agreed set of parameters (termed 'findable facets’) was defined and integrated in to a data model. APIs allowing interoperability with other systems were also developed in collaboration with the GA4GH. Exemplar data have been processed and entered into the current RD-NEXUS system to illustrate its functionality and highlight any potential issues, before being demonstrated to potential users within the ERN networks. A complete first version of RD-NEXUS was thereby created, and is now available for demonstration and testing.
D6.4 Solve-RD communication and dissemination tools
This deliverable report includes the Solve-RD communication and dissemination plans and describes the tools Solve-RD uses to implement both.