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Figure 2 | BMC Medical Informatics and Decision Making

Figure 2

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

Figure 2

Example of the representation of the “rs1057911” SNP and its alleles in the ontology. SNPs are represented as subclasses of “polymorphism”. The “rsid” annotation indicates the dbSNP identifier. The “relevant_for” annotation links SNPs to associated genes. The “can_be_tested_with” annotation associates genetic assays with the SNPs they test for. The “dbsnp_orientation_on_reference_genome” annotation represents the orientation of the SNP provided by the dbSNP repository and is used to match the reference genome orientation when parsing the results of a genomic test. The “rdfs:seeAlso” relation provides a Linked Data representation of the SNP provided by the Bio2RDF project. Alleles are represented as sub-types of the SNP, differing by the specific genetic variation they instantiate.

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BMC Medical Informatics and Decision Making

ISSN: 1472-6947

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