We develop the informatics infrastructure for phenotype data across species and clinical settings: phenotype ontologies (HPO, MP, ZP, FLOPO, plant traits), cross-species phenotype crosswalks, tools that capture and standardise phenotype descriptions, and computational pipelines that link phenotype data to underlying genes, variants, and diseases.
- Section
- Applications
- Keywords
- phenotype ontology, HPO, MP, FLOPO, phenotype standardisation, trait recognition, PhenomeNET, cross-species phenotypes
Connections
related papers borg:linkedPaper
- DeepPheno: Predicting single gene loss-of-function phenotypes using an ontology-aware hierarchical classifier
- Contribution of model organism phenotypes to the computational identification of human disease genes
- CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)
- Best behaviour? Ontologies and the formal description of animal behaviour
- Hyaline Arteriolosclerosis in 30 Strains of Aged Inbred Mice
- Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics
- DermO; an ontology for the description of dermatologic disease
- The flora phenotype ontology (FLOPO): tool for integrating morphological traits and phenotypes of vascular plants
- Nail abnormalities identified in an ageing study of 30 inbred mouse strains
- An ontology approach to comparative phenomics in plants
- The anatomy of phenotype ontologies: principles, properties and applications
- Ontology-based validation and identification of regulatory phenotypes
- Multi-faceted semantic clustering with text-derived phenotypes
- Improved characterisation of clinical text through ontology-based vocabulary expansion
- Taxon and trait recognition from digitized herbarium specimens using deep convolutional neural networks
- Interoperability between phenotype and anatomy ontologies
- PhenomeNET: a whole-phenome approach to disease gene discovery
- New approaches to the representation and analysis of phenotype knowledge in human diseases and their animal models
- Mouse genetic and phenotypic resources for human genetics
- Semantic integration of physiology phenotypes with an application to the Cellular Phenotype Ontology
- Quantitative comparison of mapping methods between Human and Mammalian Phenotype Ontology
- Towards improving phenotype representation in OWL
- Ontology-based cross-species integration and analysis of Saccharomyces cerevisiae phenotypes
- Chapter Four - The Neurobehavior Ontology: An Ontology for Annotation and Integration of Behavior and Behavioral Phenotypes
- Systematic Analysis of Experimental Phenotype Data Reveals Gene Functions
- Integrating phenotype ontologies with PhenomeNET
- Phenotype-driven discovery of digenic variants in personal genome sequences
- Ontology-based cross-species integration and analysis of Saccharomyces cerevisiae phenotypes
- Quantitative comparison of mapping methods between Human and Mammalian Phenotype Ontology
- Towards Improving Phenotype Representation in OWL
- The informatics of developmental phenotypes
Referenced by
research topics borg:topic
- Robert Hoehndorf
- Imane Boudellioua
- Mona Alshahrani
- Maxat Kulmanov
- Sarah Alghamdi
- Azza Althagafi
- Sumyyah Toonsi
- Miguel Angel Rodriguez Garcia
- The flora phenotype ontology (FLOPO): tool for integrating morphological traits and phenotypes of vascular plants
- Phenotype-driven discovery of digenic variants in personal genome sequences
- Integrating phenotype ontologies with PhenomeNET
- Improved characterisation of clinical text through ontology-based vocabulary expansion
- DeepPheno: Predicting single gene loss-of-function phenotypes using an ontology-aware hierarchical classifier
- Contribution of model organism phenotypes to the computational identification of human disease genes
- CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)
- Best behaviour? Ontologies and the formal description of animal behaviour
- Hyaline Arteriolosclerosis in 30 Strains of Aged Inbred Mice
- Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics
- DermO; an ontology for the description of dermatologic disease
- Nail abnormalities identified in an ageing study of 30 inbred mouse strains
- An ontology approach to comparative phenomics in plants
- The anatomy of phenotype ontologies: principles, properties and applications
- Ontology-based validation and identification of regulatory phenotypes
- Multi-faceted semantic clustering with text-derived phenotypes
- Taxon and trait recognition from digitized herbarium specimens using deep convolutional neural networks
- Interoperability between phenotype and anatomy ontologies
- PhenomeNET: a whole-phenome approach to disease gene discovery
- New approaches to the representation and analysis of phenotype knowledge in human diseases and their animal models
- Mouse genetic and phenotypic resources for human genetics
- Semantic integration of physiology phenotypes with an application to the Cellular Phenotype Ontology
- Quantitative comparison of mapping methods between Human and Mammalian Phenotype Ontology
- Towards improving phenotype representation in OWL
- Ontology-based cross-species integration and analysis of Saccharomyces cerevisiae phenotypes
- Chapter Four - The Neurobehavior Ontology: An Ontology for Annotation and Integration of Behavior and Behavioral Phenotypes
- Systematic Analysis of Experimental Phenotype Data Reveals Gene Functions
- Ontology-based cross-species integration and analysis of Saccharomyces cerevisiae phenotypes
- Quantitative comparison of mapping methods between Human and Mammalian Phenotype Ontology
- Towards Improving Phenotype Representation in OWL
- The informatics of developmental phenotypes
Open in the interactive graph →
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