Year: 2026
Type: preprint
Abstract: Haemoglobinopathy registries support research and outcome monitoring. Still, reuse is limited due to heterogeneous structures, registry-specific coding, and incomplete semantic representation. We designed and implemented a FAIRification workflow for the INHERENT haemoglobinopathy platform, an international genotype-phenotype registry, as part of the HemaFAIR project. The workflow was extended to the Cyprus Haemoglobinopathy Patient Registry to demonstrate its applicability across a second registry. Source data and metadata were transformed through two independent but complementary harmonisation branches executed in parallel: one producing an OMOP CDM representation, and the other generating a CARE-SM representation. The workflow generated graph-based semantic resources, predefined query services, public aggregate dashboards, and application programming interface (API) endpoints. Registry metadata were published through the European Rare Disease Registry Infrastructure and a FAIR Data Point. These outputs support findability, interoperable analysis and controlled reuse while preserving existing governance over patient-level data.
Source: medRxiv
Authors: Stella Tamana, Christina Yiangou, Kalia Orphanou, Maria Xenophontos, Panayiota L. Papasavva, César Bernabé, Marco Roos, Daphne Wijnbergen, Martijn G. Kersloot, Ronald Cornet, Anna Minaidou, Coralea Stephanou, Sotiroula Chatzimatthaiou, Annalisa Landi, Viviana Giannuzzi, Fedele Bonifazi, Carsten W. Lederer, Petros Kountouris
Language: English
Subfield: Information Systems
Field: Computer Science
Domain: Physical Sciences
Open Access status: green
OpenAlex ID: W7213552652