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Figure 3 | BMC Medical Informatics and Decision Making

Figure 3

From: Pharmacogenomic knowledge representation, reasoning and genome-based clinical decision support based on OWL 2 DL ontologies

Figure 3

A subset of OWL axioms defining a human with haplotypes CYP2C9*1 and CYP2C9*3 based on alleles in Table 1 . The “EquivalentTo” expression indicates the necessary and sufficient conditions to identify a human related to such haplotypes and the “SubClassOf” expression provides the necessary conditions to identify a human with the haplotypes. This representation is optimized for the inference of matching haplotypes from raw SNP data, which is one of the major use-cases of the ontology.

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