Construction of personal health knowledge graphs for clinical data harmonization in breast cancer
Year: 2026
Type: article
Abstract: Integrating heterogeneous personal health data and maintaining clinical registries for breast cancer management is labor-intensive. This study presents an AI-powered virtual assistant transforming identifiable breast cancer patient data into interoperable personal health knowledge graphs for secondary use. The first-generation prototype was deployed across three hospitals to extract and ingest patient data under informed consent, mapped to ontology-compliant knowledge graphs, with SHACL-based structural validation and human-in-the-loop review. Curated data covered demographics, diagnosis, pathology, laboratory results, surgery, therapy, and follow-up, from which local SPARQL queries generated per-site standardized registries. Ingestion and curation results were completed at two sites: ingestion success of 51–94%, curation success of 59–64% and automated curation of 41–47%. Overall, SHACL-based structural data quality was 94.5–96.1% (validity: >98%; completeness: 76–81%). These results demonstrate the feasibility of semi-automated health data harmonization and knowledge graph construction, representing an initial step toward scalable, interoperable registry infrastructure in breast cancer.
Source: npj Breast Cancer
Authors: Wenjie Liang, Rutger van Mierlo, Anne-Lore Bynens, Remzi Celebi, Ensar Erol, Ömer Durukan Kılıç, Isabelle de Zegher, Katerina Serafimova, Todor Primov, Svetla Boytcheva, Michaela Kargl, Mall Maasik, Cecile J. A. Wolfs, Aiara Lobo Gomes, Andre Dekker, Petros Kalendralis, Alexander Kreutz, Alpár Tana, Andreas Holzinger, Aranka Ravai-Nagy, Bart Scheenstra, Béla Bihari, Botond Kiss, Dominik Steiger, Elion Sõber, Emmanuel Benoist, Eno-Martin Lotman, Gleb Klimenkov, Gregorio Sambataro, Heimo Müller, István Horváth, János Dániel Dallos, Katrin Lepik, Kertu Mõistlik, Kristian Kankainen, Natalja Potapova, Liesbeth Boersma, Lóránt Ferencz, Markus Plass, Markus Kreuzthaler, Michel Dumontier, Monika Moga, Sina Amirrajab, Stefan Schulz, Zoltán Lázár, Zsolt Máté
Institutions: Maastricht University Medical Centre, Maastricht University, Ontotext (Bulgaria), University of Graz, Medical University of Graz, Tallinn University of Technology, North Estonia Medical Centre, RWTH Aachen University, Bern University of Applied Sciences, Egnosis SRL (Romania), European Heart Network, Maastro Clinic
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,790
Funder: Medizinische Universität Graz
OpenAlex ID: W7221435709
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