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A FAIR layer for the INHERENT haemoglobinopathy patient registry

Tamana, S.; Yiangou, C.; Orphanou, K.; Xenophontos, M.; Papasavva, P. L.; Bernabe, C.; Roos, M.; Wijnbergen, D.; Kersloot, M. G.; Cornet, R.; Minaidou, A.; Stephanou, C.; Chatzimatthaiou, S.; Landi, A.; Giannuzzi, V.; Bonifazi, F.; Lederer, C. W.; Kountouris, P.

2026-09-17 health informatics
10.64898/2026.09.16.26363187 medRxiv
Show 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.

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