Identifying redundant and missing relations in the Gene Ontology

Fleur Mougin (1)

1 Epidémiologie et Biostatistique [Bordeaux]

Significant efforts have been undertaken for providing the Gene Ontology (GO) in a computable format as well as for enriching it with logical definitions. Automated approaches can thus be applied to GO for assisting its maintenance and for checking its internal coherence. However, inconsistencies may still remain within GO. In this frame, the objective of this work was to audit GO relationships. First, reasoning over relationships was exploited for detecting redundant relations existing between GO concepts. Missing necessary and sufficient conditions were then identified based on the compositional structure of the preferred names of GO concepts. More than one thousand redundant relations and 500 missing necessary and sufficient conditions were found. The proposed approach was thus successful for detecting inconsistencies within GO relations. The application of lexical approaches as well as the exploitation of synonyms and textual definitions could be useful for identifying additional necessary and sufficient conditions. Multiple necessary and sufficient conditions for a given GO concept may be indicative of inconsistencies.

Domaines: Intelligence artificielle [cs.AI]

Fleur Mougin. Identifying redundant and missing relations in the Gene Ontology. Studies in Health Technology and Informatics, 2015, 210, pp.195-9. ⟨hal-02987887⟩