Genome biology · 2004 · 243 citations · 22 references
Life SciencesBioinformaticsGeneticsComputational BiologyKnowledge RepresentationMedical GeneticsFormal OntologyOntology DesignOntology EngineeringPhenotype OntologiesTaxonomyFlexibilityGene Ontology AnalysisOntologiesPhenotype Knowledge GraphsPhenotype Knowledge RepresentationPhenotype Reasoning
The mouse is an important model of human genetic disease. Describing phenotypes of mutant mice in a standard, structured manner that will facilitate data mining is a major challenge for bioinformatics. Here we describe a novel, compositional approach to this problem which combines core ontologies from a variety of sources. This produces a framework with greater flexibility, power and economy than previous approaches. We discuss some of the issues this approach raises.
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Gene Ontology: tool for the unification of biology
Michael Ashburner, Catherine A. Ball, Judith A. Blake et al. · Nature Genetics · 2000 · 44.6K citations · Full text
A translation approach to portable ontology specifications
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The Gene Ontology (GO) database and informatics resource
Nucleic Acids Research · 2003 · 4.7K citations · Full text
Ontology learning for the Semantic Web
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