OUP accepted manuscript

• DOI: 10.1093/database/baab004
• Publication Date: 2021-01-27T20:09:47Z
• Authors: Vincent Henry; Ivan Moszer; Olivier Dameron; Laura Xicota; Bruno Dubois; Marie‐Claude Potier; Martin Hofmann‐Ap...; Olivier Colliot
• Keywords: Formal ontology; Open Biomedical Ontologies

Omics technologies offer great promises for improving our understanding of diseases.The integration and interpretation such data pose major challenges, calling adequate knowledge models.Disease maps provide curated about disorders' pathophysiology at the molecular level adapted to omics measurements.However, expressiveness disease could be increased help avoiding ambiguities misinterpretations reinforce their interoperability with other resources.Ontologies are an framework overcome this limitation, through axiomatic definitions logical reasoning properties.We introduce Disease Map Ontology (DMO), ontological upper model based on systems biology terms.We then propose apply DMO Alzheimer's (AD).Specifically, we use it drive conversion AlzPathway, a map devoted disease, into formal ontology: AD (ADMO).We demonstrate that allows one deal issues related redundancy, naming, consistency, process classification pathway relationships.Furthermore, show can store manage multi-omics data.Finally, expand using elements from resources, as clinical features contained in ADO (AD Ontology), resulting enriched called ADMO-plus.The current versions DMO, ADMO ADMOplus freely available http://bioportal.bioontology.org/ontologies/ADMO.