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

Autor: Núria Queralt-Rosinach, M. Prieto Godoy, K. J. van der Velde, N. Benis, Mark Wilkinson, S. Zhang, R. Kaliyaperumal, N. van Lin, C. Henrique Bernabe, Annika Jacobsen, L.J. Schultze Kool, C. M. A. Le Cornec, Marco Roos, Michel Dumontier, B. dos Santos Vieira, P. Alarcon Moreno, Ronald Cornet, P. van Damme, Morris A. Swertz

Publikováno v: Journal of biomedical semantics, 13(1):9. BioMed Central Ltd
Journal of Biomedical Semantics, 13, 1
Journal of Biomedical Semantics, 13(1). BMC
Journal of Biomedical Semantics, 13(1):9. BMC
Journal of Biomedical Semantics, 13
Journal of Biomedical Semantics, 13(1):9. BioMed Central Ltd.

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 stan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::638632082e60487762ef942d5baf7e39
https://research.rug.nl/en/publications/9454c07a-942a-48d2-a51e-b5dbb965c68e