Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data

R. Kaliyaperumal, M.D. Wilkinson*, P.A. Moreno, N. Benis, R. Cornet, B.D. Vieira, M. Dumontier, C.H. Bernabe, A. Jacobsen, C.M.A. Le Cornec, M.P. Godoy, N. Queralt-Rosinach, L.J.S. Kool, M.A. Swertz, P. van Damme, K.J. van der Velde, N. Lalout, S.X. Zhang, M. Roos

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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Background The European Platform on Rare Disease Registration (EU RD Platform) aims to address the fragmentation of European rare disease (RD) patient data, scattered among hundreds of independent and non-coordinating registries, by establishing standards for integration and interoperability. The first practical output of this effort was a set of 16 Common Data Elements (CDEs) that should be implemented by all RD registries. Interoperability, however, requires decisions beyond data elements - including data models, formats, and semantics. Within the European Joint Programme on Rare Diseases (EJP RD), we aim to further the goals of the EU RD Platform by generating reusable RD semantic model templates that follow the FAIR Data Principles. Results Through a team-based iterative approach, we created semantically grounded models to represent each of the CDEs, using the SemanticScience Integrated Ontology as the core framework for representing the entities and their relationships. Within that framework, we mapped the concepts represented in the CDEs, and their possible values, into domain ontologies such as the Orphanet Rare Disease Ontology, Human Phenotype Ontology and National Cancer Institute Thesaurus. Finally, we created an exemplar, reusable ETL pipeline that we will be deploying over these non-coordinating data repositories to assist them in creating model-compliant FAIR data without requiring site-specific coding nor expertise in Linked Data or FAIR. Conclusions Within the EJP RD project, we determined that creating reusable, expert-designed templates reduced or eliminated the requirement for our participating biomedical domain experts and rare disease data hosts to understand OWL semantics. This enabled them to publish highly expressive FAIR data using tools and approaches that were already familiar to them.
Original languageEnglish
Article number9
Number of pages16
JournalJournal of biomedical semantics
Issue number1
Publication statusPublished - 15 Mar 2022


  • FAIR data
  • Rare disease
  • Interoperability
  • Linked data
  • Data transformation
  • Semantic web
  • Ontologies
  • Common data elements
  • Disease registries

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