ArticleAnnual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference2009
Entity/quality-based logical definitions for the human skeletal phenome using PATO.
Article in Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed.
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- A combinatorial approach implementing new database structures to facilitate practical data curation management of QTL, association, correlation and heritability data on trait variants.Database : the journal of biological databases and curation · 2023Article
- Towards semantic interoperability: finding and repairing hidden contradictions in biomedical ontologies.BMC medical informatics and decision making · 2020Article
- Integration of anatomy ontology data with protein-protein interaction networks improves the candidate gene prediction accuracy for anatomical entities.BMC bioinformatics · 2020Article
- MCO: towards an ontology and unified vocabulary for a framework-based annotation of microbial growth conditions.Bioinformatics (Oxford, England) · 2019Article
- The anatomy of phenotype ontologies: principles, properties and applications.Briefings in bioinformatics · 2018Article
- Modifier Ontologies for frequency, certainty, degree, and coverage phenotype modifier.Biodiversity data journal · 2018Article
- A new synonym-substitution method to enrich the human phenotype ontology.BMC bioinformatics · 2017Article
- Semantic prioritization of novel causative genomic variants.PLoS computational biology · 2017Article
- An information model for computable cancer phenotypes.BMC medical informatics and decision making · 2016Article
- The digital revolution in phenotyping.Briefings in bioinformatics · 2016Article
- The Cell Ontology 2016: enhanced content, modularization, and ontology interoperability.Journal of biomedical semantics · 2016Article
- Linking MedDRA(®)-Coded Clinical Phenotypes to Biological Mechanisms by the Ontology of Adverse Events: A Pilot Study on Tyrosine Kinase Inhibitors.Drug safety · 2016Article
- Reporting phenotypes in mouse models when considering body size as a potential confounder.Journal of biomedical semantics · 2016Review
- Next-generation diagnostics and disease-gene discovery with the Exomiser.Nature protocols · 2015Article
- Perspectives on next steps in classification of oro-facial pain - Part 3: biomarkers of chronic oro-facial pain - from research to clinic.Journal of oral rehabilitation · 2015Review
- Capturing phenotypes for precision medicine.Cold Spring Harbor molecular case studies · 2015Article
- Finding our way through phenotypes.PLoS biology · 2015Article
- PhenoMiner: from text to a database of phenotypes associated with OMIM diseases.Database : the journal of biological databases and curation · 2015Article
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Authors and funding
9 authors.
Funding
Abstract
This paper describes an approach to providing computer-interpretable logical definitions for the terms of the Human Phenotype Ontology (HPO) using PATO, the ontology of phenotypic qualities, to link terms of the HPO to the anatomic and other entities that are affected by abnormal phenotypic qualities. This approach will allow improved computerized reasoning as well as a facility to compare phenotypes between different species. The PATO mapping will also provide direct links from phenotypic abnormalities and underlying anatomic structures encoded using the Foundational Model of Anatomy, which will be a valuable resource for computational investigations of the links between anatomical components and concepts representing diseases with abnormal phenotypes and associated genes.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.