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

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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