ReviewDisease models & mechanisms
Phenotype ontologies for mouse and man: bridging the semantic gap.
Review in Disease models & mechanisms. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed.
- Bridging mouse and human anatomies; a knowledge-based approach to comparative anatomy for disease model phenotyping.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Review
- Post-synaptic scaffold protein TANC2 in psychiatric and somatic disease risk.Disease models & mechanisms · 2022Article
- Linking common human diseases to their phenotypes; development of a resource for human phenomics.Journal of biomedical semantics · 2021Article
- The anatomy of phenotype ontologies: principles, properties and applications.Briefings in bioinformatics · 2018Article
- Genetic determinants of fibro-osseous lesions in aged inbred mice.Experimental and molecular pathology · 2016Article
- Genome-wide identification of copy number variation using high-density single-nucleotide polymorphism array in Japanese Black cattle.BMC genetics · 2016Article
- The Disease Ontology: fostering interoperability between biological and clinical human disease-related data.Mammalian genome : official journal of the International Mammalian Genome Society · 2015Article
- OntoVIP: an ontology for the annotation of object models used for medical image simulation.Journal of biomedical informatics · 2014Article
- Quantifying the impact and extent of undocumented biomedical synonymy.PLoS computational biology · 2014Article
- Commentary on Shimoyama et al. (2012): three ontologies to define phenotype measurement data.Frontiers in genetics · 2014Article
- Editorial: biological ontologies and semantic biology.Frontiers in genetics · 2014Article
- PosMed: Ranking genes and bioresources based on Semantic Web Association Study.Nucleic acids research · 2013Article
- Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish.Disease models & mechanisms · 2013Article
- Toward knowledge support for analysis and interpretation of complex traits.Genome biology · 2013Review
- InterMOD: integrated data and tools for the unification of model organism research.Scientific reports · 2013Article
- Article
- Semantically enabling a genome-wide association study database.Journal of biomedical semantics · 2012Article
- Quantitative comparison of mapping methods between Human and Mammalian Phenotype Ontology.Journal of biomedical semantics · 2012Article
- Mouse genetic and phenotypic resources for human genetics.Human mutation · 2012Review
- MouseFinder: Candidate disease genes from mouse phenotype data.Human mutation · 2012Article
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
A major challenge of the post-genomic era is coding phenotype data from humans and model organisms such as the mouse, to permit the meaningful translation of phenotype descriptions between species. This ability is essential if we are to facilitate phenotype-driven gene function discovery and empower comparative pathobiology. Here, we review the current state of the art for phenotype and disease description in mice and humans, and discuss ways in which the semantic gap between coding systems might be bridged to facilitate the discovery and exploitation of new mouse models of human diseases.
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Registered trials
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.