MIO: An ontology for annotating and integrating medical knowledge in myocardial infarction to enhance clinical decision making

Abstract

As biotechnology and computer science continue to advance, there's a growing amount of biomedical data worldwide. However, standardizing and consolidating these data remains challenging, making analysis and comprehension more difficult. To enhance research on complex diseases like myocardial infarction (MI), an ontology is necessary to ensure consistent data labeling and knowledge representation. This will facilitate data management and the application of artificial intelligence techniques in this field, ultimately advancing precision medicine research for MI. This study introduced the MI Ontology (MIO), which was developed using Stanford's seven-step method and Protégé. MIO aims to support precision medicine research on MI by effectively modeling and representing MI-related concepts and relationships. The validation of the MIO model involved employing Ontology Web Language (OWL) reasoners and comparing it with other disease-specific ontologies. MIO is an ontology model comprising of 3090 classes, 14 object attributes, 3494 individuals, 9415 synonyms and 49263 axioms, which encompass knowledge related to MI such as anatomical entities, clinical findings, drugs, genes, influencing factors, pathogenesis, patients-related concepts, procedures, and disease types. Furthermore, MIO has passed logical consistency validation and exhibits a broader conceptual scope and deeper knowledge structure than other disease-specific ontologies. Additionally, clinical use scenarios for MIO were developed to help address specific clinical problems. This study constructed the first comprehensive disease-specific ontology in cardiovascular diseases, named MIO, to promote precision medicine research on MI. MIO integrates and standardizes medical data, addressing complexity and standardization challenges. This promotes the use of big data analysis, explainable AI, and deep phenotype research in precision medicine. Future efforts will focus on enhancing and expanding MIO's applicability and scalability for superior services in this field.