ArticleBioinformatics (Oxford, England)2010
Interoperability between phenotype and anatomy ontologies.
Article in Bioinformatics (Oxford, England), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed.
- Structuring, reuse and analysis of electronic dental data using the Oral Health and Disease Ontology.Journal of biomedical semantics · 2020Article
- Quantitative evaluation of ontology design patterns for combining pathology and anatomy ontologies.Scientific reports · 2019Article
- Standards-based Semantic Integration of Manufacturing Information: Past, Present, and Future.Journal of manufacturing systems · 2019Article
- The anatomy of phenotype ontologies: principles, properties and applications.Briefings in bioinformatics · 2018Article
- Integrating phenotype ontologies with PhenomeNET.Journal of biomedical semantics · 2017Article
- Semantic prioritization of novel causative genomic variants.PLoS computational biology · 2017Article
- The flora phenotype ontology (FLOPO): tool for integrating morphological traits and phenotypes of vascular plants.Journal of biomedical semantics · 2016Article
- The digital revolution in phenotyping.Briefings in bioinformatics · 2016Article
- The role of ontologies in biological and biomedical research: a functional perspective.Briefings in bioinformatics · 2015Article
- GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profiles.Bioinformatics (Oxford, England) · 2015Article
- Similarity-based search of model organism, disease and drug effect phenotypes.Journal of biomedical semantics · 2015Article
- An ontology approach to comparative phenomics in plants.Plant methods · 2015Article
- Mouse model phenotypes provide information about human drug targets.Bioinformatics (Oxford, England) · 2014Article
- Enriched biodiversity data as a resource and service.Biodiversity data journal · 2014Article
- Evaluation of research in biomedical ontologies.Briefings in bioinformatics · 2013Article
- Using ontologies to study cell transitions.Journal of biomedical semantics · 2013Article
- An integrative, translational approach to understanding rare and orphan genetically based diseases.Interface focus · 2013Article
- Learning to recognize phenotype candidates in the auto-immune literature using SVM re-ranking.PloS one · 2013Article
- Computational tools for comparative phenomics: the role and promise of ontologies.Mammalian genome : official journal of the International Mammalian Genome Society · 2012Review
- Ontology-based cross-species integration and analysis of Saccharomyces cerevisiae phenotypes.Journal of biomedical semantics · 2012Article
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3 authors.
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Abstract
motivationPhenotypic information is important for the analysis of the molecular mechanisms underlying disease. A formal ontological representation of phenotypic information can help to identify, interpret and infer phenotypic traits based on experimental findings. The methods that are currently used to represent data and information about phenotypes fail to make the semantics of the phenotypic trait explicit and do not interoperate with ontologies of anatomy and other domains. Therefore, valuable resources for the analysis of phenotype studies remain unconnected and inaccessible to automated analysis and reasoning.
resultsWe provide a framework to formalize phenotypic descriptions and make their semantics explicit. Based on this formalization, we provide the means to integrate phenotypic descriptions with ontologies of other domains, in particular anatomy and physiology. We demonstrate how our framework leads to the capability to represent disease phenotypes, perform powerful queries that were not possible before and infer additional knowledge. AVAILABILITY: http://bioonto.de/pmwiki.php/Main/PheneOntology.
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