Univ. Prof. Dr.
Data Integration, Interoperability & Standards
Tools & Services
Publikationen
An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets
Although rare diseases (RDs) affect over 260 million individuals worldwide, low data quality and scarcity challenge effective care and research. This work aims to harmonise the Common Data Set by European Rare Disease Registry Infrastructure, Health Level 7 Fast Healthcare Interoperability Base Resources, and the Global Alliance for Genomics and Health Phenopacket Schema into a novel rare disease common data model (RD-CDM), laying the foundation for developing international RD-CDMs aligned with these data standards. We developed a modular-based GitHub repository and documentation to account for flexibility, extensions and further development. Recommendations on the model’s cardinalities are given, inviting further refinement and international collaboration. An ontology-based approach was selected to find a common denominator between the semantic and syntactic data standards. Our RD-CDM version 2.0.0 comprises 78 data elements, extending the ERDRI-CDS by 62 elements with previous versions implemented in four German university hospitals capturing real world data for development and evaluation. We identified three categories for evaluation: Medical Data Granularity, Clinical Reasoning and Medical Relevance, and Interoperability and Harmonisation.
Semi-automated approach to validate and enrich LOINC codes by FHIR Server
Current efforts in modernizing health system are bringing great possibility for secondary use of medical data. To further support these efforts, medical institutions worldwide are fostering use of electronic terminologies for clinical care and data management. One of the challenges in sharing medical data between medical institutions is to assure existence of semantic interoperability among exchanging information systems. To this end, we present here a novel method for automated validation of locally used LOINC concepts. This semi- automated approach will allow medical institutions to check if their laboratory terms are correctly mapped to LOINC concepts, thus assuring semantic interoperability required for secondary use of medical data.
Kurse
RDM4Researchers: Designing Reproducible Life Science Research Across the Data Lifecycle
Dieser Kurs richtet sich an Lebenswissenschaftler, die möchten, dass ihre Daten lange nach Abschluss eines Experiments verständlich, nutzbar und zuverlässig bleiben. Anstatt Management von Forschungsdaten (RDM) als Bürokratie oder Compliance zu behandeln, nähert sich der Kurs diesem als praktischen Bestandteil guter Forschung. Anhand von Beispielen aus den Bereichen Omics, Bildgebung, Mikroskopie und Molekularbiologie erkunden die Teilnehmer, wie alltägliche Entscheidungen – wie Daten benannt, dokumentiert, analysiert und geteilt werden – die Reproduzierbarkeit, Wiederverwendbarkeit und den langfristigen Wert im gesamten Forschungsdatenlebenszyklus beeinflussen.
In KLIPS anzeigenOpen Science Essentials: Tools, Principles, and Practices
Lecture introduces the principles and practice of Open Science and the FAIR (Findable, Accessible, Interoperable, Reusable) principles in a clear and accessible way for researchers across disciplines. It explores why transparency, collaboration, and responsible data sharing are becoming central to research, particularly in light of funder requirements under programmes such as Horizon Europe. Participants will gain an overview of key concepts, policy context, and practical steps to integrate Open Science and FAIR principles into their everyday research workflows.
In KLIPS anzeigen