{
  "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.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Blood Disorder Genetics & Thalassemia, The Cyprus Institute of Neurology & Genetics, 6 Iroon Avenue, 2371 Agios Dometios, Nicosia, Cyprus"
  ],
  "article_type": "PUBLISHAHEADOFPRINT",
  "arxiv": null,
  "author_total": 18,
  "authors": [
    {
      "name": "S. Tamana"
    },
    {
      "name": "C. Yiangou"
    },
    {
      "name": "K. Orphanou"
    },
    {
      "name": "M. Xenophontos"
    },
    {
      "name": "P. L. Papasavva"
    },
    {
      "name": "C. Bernabe"
    },
    {
      "name": "M. Roos"
    },
    {
      "name": "D. Wijnbergen"
    },
    {
      "name": "M. G. Kersloot"
    },
    {
      "name": "R. Cornet"
    },
    {
      "name": "A. Minaidou"
    },
    {
      "name": "C. Stephanou"
    },
    {
      "name": "S. Chatzimatthaiou"
    },
    {
      "name": "A. Landi"
    },
    {
      "name": "V. Giannuzzi"
    },
    {
      "name": "F. Bonifazi"
    },
    {
      "name": "C. W. Lederer"
    },
    {
      "affs": [
        0
      ],
      "name": "P. Kountouris"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/0egx0zmtkammc.bib",
  "cited_by": 0,
  "doi": "10.64898/2026.09.16.26363187",
  "fulltext_url": "https://www.medrxiv.org/content/10.64898/2026.09.16.26363187v1.full",
  "id": "0egx0zmtkammc",
  "issns": [],
  "landing_url": "https://www.medrxiv.org/content/10.64898/2026.09.16.26363187v1",
  "language": null,
  "licence": "CC-BY-NC-ND",
  "licence_label": "CC BY-NC-ND",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "medrxiv",
      "health informatics"
    ],
    [
      "openalex",
      "1710|Research Data Management Practices"
    ]
  ],
  "openalex": "W7213552652",
  "pdf_url": "https://www.medrxiv.org/content/10.64898/2026.09.16.26363187v1.full.pdf",
  "pmcid": null,
  "pmid": null,
  "published": "2026-09-16",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/0egx0zmtkammc.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:18:49Z",
      "native_id": "10.64898/2026.09.16.26363187",
      "source": "medrxiv",
      "url": "https://www.medrxiv.org/content/10.64898/2026.09.16.26363187v1"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "medrxiv:health informatics",
      "subfield": "epidemiology-public-health"
    }
  ],
  "title": "A FAIR layer for the INHERENT haemoglobinopathy patient registry",
  "title_text": "A FAIR layer for the INHERENT haemoglobinopathy patient registry",
  "type": "preprint",
  "updated_at": "2026-10-30T12:18:49Z",
  "url": "https://research.draconitic.com/paper/0egx0zmtkammc",
  "venue": "medRxiv",
  "versions": []
}