BACKGROUND: Connecting currently existing, heterogeneous rare disease (RD) registries would greatly facilitate epidemiological and clinical research. To increase their interoperability, the European Union developed a set of Common Data Elements (CDEs) for RD registries. OBJECTIVES: To implement the CDEs and the FAIR data principles in the Registry of Vascular Anomalies (VASCA). METHODS: We created a semantic model for the CDE and transformed this into a Resource Description Framework (RDF) template. The electronic case report forms (eCRF) were mapped to the RDF template and published in a FAIR Data Point (FDP). RESULTS: The FAIR VASCA registry was successfully implemented using Castor EDC (Electronic Data Capture) software. CONCLUSION: FAIR technology allows researchers to query and combine data from different registries in real-time.
BACKGROUND: Connecting currently existing, heterogeneous rare disease (RD) registries would greatly facilitate epidemiological and clinical research. To increase their interoperability, the European Union developed a set of Common Data Elements (CDEs) for RD registries. OBJECTIVES: To implement the CDEs and the FAIR data principles in the Registry of Vascular Anomalies (VASCA). METHODS: We created a semantic model for the CDE and transformed this into a Resource Description Framework (RDF) template. The electronic case report forms (eCRF) were mapped to the RDF template and published in a FAIR Data Point (FDP). RESULTS: The FAIR VASCA registry was successfully implemented using Castor EDC (Electronic Data Capture) software. CONCLUSION: FAIR technology allows researchers to query and combine data from different registries in real-time.
Entities:
Keywords:
health information interoperability; rare diseases; registries
Authors: Jeroen A M Beliën; Mariëlle E van Gijn; Morris A Swertz; K Joeri van der Velde; Gurnoor Singh; Rajaram Kaliyaperumal; XiaoFeng Liao; Sander de Ridder; Susanne Rebers; Hindrik H D Kerstens; Fernanda de Andrade; Jeroen van Reeuwijk; Fini E De Gruyter; Saskia Hiltemann; Maarten Ligtvoet; Marjan M Weiss; Hanneke W M van Deutekom; Anne M L Jansen; Andrew P Stubbs; Lisenka E L M Vissers; Jeroen F J Laros; Esther van Enckevort; Daphne Stemkens; Peter A C 't Hoen Journal: Sci Data Date: 2022-04-13 Impact factor: 8.501