Taxon constraints in OWL
April 24, 2012 2 Comments
A number of years ago, the Gene Ontology database included such curiosities as:
- A slime mold gene that had a function in fin morphogenesis
- Chicken genes that were involved in lactation
These genes would be pretty fascinating, if they actually existed. Unfortunately, these were all annotation errors, arising from a liberal use of inference by sequence similarity.
We decided to adopt a formalism specified by Wacek Kusnierczyk, in which we placed taxon constraints on classes in the ontology, and used these to detect annotation errors.
The taxon constraints make use of two relations:
You can see examples of usage in GO either in QuickGO (e.g. lactation) , or by opening the x-taxon-importer.owl ontology in Protege. This ontology is used in the GO Jenkins environment to detect internal consistencies in the ontology.
The same relations are also in use in another multi-species ontology, Uberon.
In uberon, the constraints are used for ontology consistency checking, and to provide taxon subsets – for example, aves-basic.owl, which excludes classes such as mammary gland, pectoral fin, etc.
Semantics of the shortcut relations
In the Deegan et al paper we described a rule-based procedure for using the taxon constraint relations. This has the advantage of being scalable over large taxon ontologies and large gene association sets. But a better approach is to encode this directly as owl axioms and use a reasoner. For this we need to use OWL axioms directly, and we need to choose a particular way of representing a taxonomy.
We can treat the taxon constraint relations as convenient shortcut relations which ‘expand’ to OWL axioms that capture the intended semantics in terms of a standard ObjectProperty “in_organism”. For now we leave in_organism undefined, but the basic idea is that for anatomical structures and cell components “in_organism” is the part_of parent that is an organism, whereas for processes it is the organism that encodes the gene products that execute the process.
In fact there are two ways to expand to the “in_organism” class axioms:
The more straightforward way:
?X only_in_taxon ?Y ===> ?X SubClassOf in_organism only ?Y
?X never_in_taxon ?Y ===> ?X SubClassOf in_organism only not ?Y
To achieve the desired entailments, it is necessary for sibling taxa to be declared disjoint (e.g. Eubacteria DisjointWith Eukaryota). Note that these disjointness axioms are not declared in the default NCBITaxon translation.
A different way which has the advantage of staying within the OWL2-EL subset:
?X only_in_taxon ?Y ===> ?X SubClassOf in_organism some ?Y
?X never_in_taxon ?Y ===> ?X DisjointWith in_organism some ?Y
This requires all sibling nodes (A,B) in the NCBI taxonomy to have a
in_organism some ?A DisjointWith in_organism some ?B
These general axioms are automatically generated and available in taxslim-disjoint-over-in-taxon.owl
GO also makes use of taxon groupings – these include new classes such as “prokaryotes” which are defined using UnionOf axioms.. They are available in go-taxon-groupings.owl.
One of the uses of taxon constraints is to build taxon-specific subsets of ontologies. This will be covered in a future post.
- Waclaw Kusnierczyk (2008) Taxonomy-based partitioning of the Gene Ontology, Journal of Biomedical Informatics
- Deegan Née Clark, J. I., Dimmer, E. C., and Mungall, C. J. (2010). Formalization of taxon-based constraints to detect inconsistencies in annotation and ontology development. BMC Bioinformatics 11, 530
- Mungall, C. J., Torniai, C., Gkoutos, G. V., Lewis, S. E., and Haendel, M. A. (2012) Uberon, an integrative multi-species anatomy ontology Genome Biology 13, R5. http://genomebiology.com/2012/13/1/R5