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. 2015 Feb 22;15:12. doi: 10.1186/s12911-015-0130-1

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© Samwald et al.; licensee BioMed Central. 2015

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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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.