Rare Disease Tool Connectathon

Purpose: Connecting platforms (PhenoTips, RD-Connect) and diagnosis tools (PubCaseFinder, Mendelian)

1. RD-Connect

   We linked RD-Connect directly to PubCaseFinder. When a user has undertaken filtration and prioritisation of a rare disease case within the RD-Connect platform (platform.rd-connect.eu), and has a short-list of interesting candidate variants, they can now click on a direct link out from the “gene” field in their results section to PubCaseFinder.

   The action uses the HPO terms associated with the case in the RD-Connect PhenoTips instance together with the gene identifier (HGNC gene symbol) of the variant of interest, to generate the appropriate link. The link automatically triggers the query at PubCaseFinder, returning the prioritised candidate disease lists, based on both OMIM and Orphanet, instantaneously, within the PubCaseFinder website.

   As RD-Connect currently uses HGNC gene symbols, matched to the relevant Ensembl release as gene identifiers, whereas PubCaseFinder uses Entrez IDs, implementation required updates to both systems, with PubCaseFinder adapting their system to receive HGNC gene symbols via the URL as an alternative entry point, while maintaining the Entrez ID functionality.

2. PhenoTips

   • added support for PubCaseFinder as a diagnosis suggestion service
   • added support for ORDO diagnosis suggestions
   • improved UI of diagnosis suggestions

3. PubCaseFinder

   • added button to create a new patient in PhenoTips from the HPO terms that have entered
   • added support for HGNC identifiers