A FAIR layer for the INHERENT haemoglobinopathy patient registry
- 1Department of Blood Disorder Genetics & Thalassemia, The Cyprus Institute of Neurology & Genetics, 6 Iroon Avenue, 2371 Agios Dometios, Nicosia, Cyprus
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.
Related
- How representative are responders to the english cancer patient experience survey of english breast cancer patients? A cohort study using linked national cancer patient experience survey and cancer registry data
- Statutory Premarital Haemoglobinopathy Screening, Marriage Decisions, and Affected Births: A Systematic Review
- Ileoileocolic Type Intussusception With Double Enhanced Layer Sign in a Pediatric Patient: A Case Report
- Patient Journey, HS Burden and Unmet Need across Denmark and Norway: Real-World Data from the HISREG Registry
- A Web-Based Registry Framework Linking Transfusion Practice to Long-Term Patient Outcomes: Design and Single-Center Feasibility Study.
BibTeX
@misc{tamana2026fair,
title = {{A FAIR layer for the INHERENT haemoglobinopathy patient registry}},
author = {S. Tamana and C. Yiangou and K. Orphanou and M. Xenophontos and P. L. Papasavva and C. Bernabe and M. Roos and D. Wijnbergen and M. G. Kersloot and R. Cornet and A. Minaidou and C. Stephanou and S. Chatzimatthaiou and A. Landi and V. Giannuzzi and F. Bonifazi and C. W. Lederer and P. Kountouris},
howpublished = {medRxiv},
year = {2026},
month = sep,
doi = {10.64898/2026.09.16.26363187},
url = {https://www.medrxiv.org/content/10.64898/2026.09.16.26363187v1},
note = {CC BY-NC-ND},
}
RIS
TY - UNPB
TI - A FAIR layer for the INHERENT haemoglobinopathy patient registry
AU - S. Tamana
AU - C. Yiangou
AU - K. Orphanou
AU - M. Xenophontos
AU - P. L. Papasavva
AU - C. Bernabe
AU - M. Roos
AU - D. Wijnbergen
AU - M. G. Kersloot
AU - R. Cornet
AU - A. Minaidou
AU - C. Stephanou
AU - S. Chatzimatthaiou
AU - A. Landi
AU - V. Giannuzzi
AU - F. Bonifazi
AU - C. W. Lederer
AU - P. Kountouris
PY - 2026
DA - 2026/09/16
PB - medRxiv
DO - 10.64898/2026.09.16.26363187
UR - https://www.medrxiv.org/content/10.64898/2026.09.16.26363187v1
AB - 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.
ER -