9 Precision Medicine in the Context of Ontology
Rehab A. Rayan1* and Imran Zafar2
1Department of Epidemiology, High Institute of Public Health, Alexandria University, Alexandria, Egypt
2Department of Bioinformatics and Computational Biology, Virtual University of Pakistan, Lahore, Pakistan
Abstract
Data volumes in the field of precision medicine (PM) increase exponentially as bio-medical technology develops. The disseminated information contains valuable knowledge about the location of the related biomedical units and their semantic relationships. To this end, a model must be established to represent information as ontology in order to formally reflect the relationships between diseases, phenotypes, genes, mutations, drugs and so on, and to achieve effective integration of heterogeneous data. Ontologies are systematic descriptions of knowledge that can combine and examine substantial quantities of heterogeneous data, enabling accurate analysis of a patient. The application of ontologies in healthcare is largely directed at describing and reorganizing medical terminologies. Health professionals have advanced their technical expressions and vocabulary to support storing and communicating generic medical knowledge and patient-specific information proficiently. These terminologies, optimized for human processing, are marked by a substantial quantity of inherent knowledge. Health information systems should deliver complicated and comprehensive medical concepts without ambiguities, ...
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