Lecture, Presentation, Training materials

HemaFAIR Lecture 2 - Introduction to Biomedical Ontologies

This lecture, delivered by Dr Ronald Cornet (Amsterdam University Medical Center), introduces the fundamental concepts of biomedical ontologies and their role in structuring, integrating and enabling the FAIRification of health and research data. Participants are guided through the principles of semantic modelling, ontology design and the use of controlled vocabularies to achieve interoperability across heterogeneous biomedical resources.

The session explains how ontologies provide a shared and formal representation of domain knowledge, supporting data harmonisation, cross-dataset querying and machine-actionable workflows. Real-world examples from rare disease and haemoglobinopathy research demonstrate how semantic technologies facilitate data integration and reuse within the HemaFAIR ecosystem.

Licence: Creative Commons Attribution 4.0 International

Contact: Dr Sotiroula Chatzimatthaiou at sotiroula@cing.ac.cy

Keywords: FAIR principles, Research Data Management, Open Science, Data sharing, Data reuse, Metadata, European research projects, HemaFAIR, Ontologies

Target audience: Researchers, Data Scientist, Data stewards, Data managers, Students

Resource type: Lecture, Presentation, Training materials

Version: 1

Status: Active

Prerequisites:

No prerequisites. This material is intended as a first introduction to the Biomedical Ontologies

Learning objectives:

-Define biomedical ontologies and explain their role in the life-science and health data ecosystem
-Describe how ontologies enable semantic interoperability and support the FAIR principles
-Distinguish between controlled vocabularies, terminologies and ontologies
-Explain how ontology-based annotation improves data integration, discovery and reuse
-Recognise the use of ontologies within common and conceptual data models
-Identify practical applications of biomedical ontologies in rare disease and haemoglobinopathy research

Date published: 2025-01-25

Authors: Ronald Cornet

Contributors: Martijn Kersloot, Petros Kountouris

Scientific topics: FAIR data, Data management, Open science, Ontology and terminology, Biomedical science


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