Semantic modelling of Common Data Elements for Rare Disease registries, and a prototype workflow for their deployment over registry data

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Authors: Rajaram Kaliyaperumal; Mark D Wilkinson; Pablo Alarcón Moreno; Nirupama Benis; Ronald Cornet; Bruna dos Santos Vieira; Michel Dumontier; César Henrique Bernabé; Annika Jacobsen; Clémence M. A. Le Cornec; Mario Prieto Godoy; Núria Queralt-Rosinach; Leo J Schultze Kool; Morris A Swertz; Philip van Damme; Joeri K van der Velde; Nawel van Lin; Shuxin Zhang; Marco Roos

Journal title: Journal of Biomedical Semantics

Journal publisher: BioMed Central

Published year: 2022

DOI identifier: 10.1186/s13326-022-00264-6

ISSN: 2041-1480