Semantic web technologies are used in the construction of a bio-health knowledge base model, which, when coupled with an Electronic Health Record (EHR), is to be used by clinicians. Specifically, this ontology provides the basis for a domain knowledge resource that attempts to bridge biological and clinical information. The prototype is focused on a Cystic Fibrosis exemplar, and the content of the model includes: Cochrane reviews; a time-oriented description; gene therapy; and the most common cystic fibrosis gene mutations. The facts within the model range from nucleo-base mutation and amino acid change to clinical phenotype. The knowledge is represented by layers from the micro level to the macro level. Here, emphasis is placed upon the details between levels (i.e., the vertical axis) and these are made available to bridge the knowledge from different levels. The description of gender, age, mutation and clinical manifestations are clues for matching points within an EHR system. OWL is the ontology representation language used and the output from Protégé-OWL is a XML-based file formatwhich facilitates further application and communication.
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