Type
DatasetKAUST Department
Bio-Ontology Research Group (BORG)Computational Bioscience Research Center (CBRC)
Computer Science Program
Computer, Electrical and Mathematical Sciences and Engineering (CEMSE) Division
Date
2017Permanent link to this record
http://hdl.handle.net/10754/663948
Metadata
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Abstract Background Integration and analysis of phenotype data from humans and model organisms is a key challenge in building our understanding of normal biology and pathophysiology. However, the range of phenotypes and anatomical details being captured in clinical and model organism databases presents complex problems when attempting to match classes across species and across phenotypes as diverse as behaviour and neoplasia. We have previously developed PhenomeNET, a system for disease gene prioritization that includes as one of its components an ontology designed to integrate phenotype ontologies. While not applicable to matching arbitrary ontologies, PhenomeNET can be used to identify related phenotypes in different species, including human, mouse, zebrafish, nematode worm, fruit fly, and yeast. Results Here, we apply the PhenomeNET to identify related classes from two phenotype and two disease ontologies using automated reasoning. We demonstrate that we can identify a large number of mappings, some of which require automated reasoning and cannot easily be identified through lexical approaches alone. Combining automated reasoning with lexical matching further improves results in aligning ontologies. Conclusions PhenomeNET can be used to align and integrate phenotype ontologies. The results can be utilized for biomedical analyses in which phenomena observed in model organisms are used to identify causative genes and mutations underlying human disease.Citation
RodrĂGuez-GarcĂA, M., Gkoutos, G., Schofield, P., & Hoehndorf, R. (2017). Integrating phenotype ontologies with PhenomeNET. Figshare. https://doi.org/10.6084/M9.FIGSHARE.C.3958477.V1Publisher
figshareRelations
Is Supplement To:- [Article]
Rodríguez-García MÁ, Gkoutos GV, Schofield PN, Hoehndorf R (2017) Integrating phenotype ontologies with PhenomeNET. Journal of Biomedical Semantics 8. Available: http://dx.doi.org/10.1186/s13326-017-0167-4.. DOI: 10.1186/s13326-017-0167-4 HANDLE: 10754/626413
ae974a485f413a2113503eed53cd6c53
10.6084/m9.figshare.c.3958477.v1