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Converting disease maps into heavyweight ontologies: general methodology and application to Alzheimer's disease.


ABSTRACT: Omics technologies offer great promises for improving our understanding of diseases. The integration and interpretation of such data pose major challenges, calling for adequate knowledge models. Disease maps provide curated knowledge about disorders' pathophysiology at the molecular level adapted to omics measurements. However, the expressiveness of disease maps could be increased to help in avoiding ambiguities and misinterpretations and to reinforce their interoperability with other knowledge resources. Ontology is an adequate framework to overcome this limitation, through their axiomatic definitions and logical reasoning properties. We introduce the Disease Map Ontology (DMO), an ontological upper model based on systems biology terms. We then propose to apply DMO to Alzheimer's disease

SUBMITTER: Henry V 

PROVIDER: S-EPMC7937031 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature

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