Evaluating semantic similarity methods for comparison of text-derived phenotype profiles.
PMID:35123470
Linking common human diseases to their phenotypes; development of a resource for human phenomics.
PMID:34425897
DTI-Voodoo: machine learning over interaction networks and ontology-based background knowledge predicts drug-target interactions.
PMID:34320178
Improved characterisation of clinical text through ontology-based vocabulary expansion.
PMID:33845909
DeepViral: prediction of novel virus-host interactions from protein sequences and infectious disease phenotypes.
PMID:33682875
Establishment and application of information resource of mutant mice in RIKEN BioResource Research Center.
PMID:33455583
A review of computational drug repositioning: strategies, approaches, opportunities, challenges, and directions.
PMID:33431024
Ontological representation, classification and data-driven computing of phenotypes.
PMID:33349245
Transforming the study of organisms: Phenomic data models and knowledge bases.
PMID:33232313
DeepPheno: Predicting single gene loss-of-function phenotypes using an ontology-aware hierarchical classifier.
PMID:33206638
A Collection of Benchmark Data Sets for Knowledge Graph-based Similarity in the Biomedical Domain.
PMID:33181823
Network analysis of autistic disease comorbidities in Chinese children based on ICD-10 codes.
PMID:33069223
Predicting candidate genes from phenotypes, functions and anatomical site of expression.
PMID:33051643
Semantic similarity and machine learning with ontologies.
PMID:33049044
Integration of anatomy ontology data with protein-protein interaction networks improves the candidate gene prediction accuracy for anatomical entities.
PMID:33028186
UFO: A tool for unifying biomedical ontology-based semantic similarity calculation, enrichment analysis and visualization.
PMID:32645039
BioHackathon 2015: Semantics of data for life sciences and reproducible research.
PMID:32308977
Semantic characterization of adverse outcome pathways.
PMID:32278258
TarGo: network based target gene selection system for human disease related mouse models.
PMID:32257911
Genetic Modifiers and Rare Mendelian Disease.
PMID:32106447
Automated Methods Enable Direct Computation on Phenotypic Descriptions for Novel Candidate Gene Prediction.
PMID:31998331
Evolving knowledge graph similarity for supervised learning in complex biomedical domains.
PMID:31900127
Formal axioms in biomedical ontologies improve analysis and interpretation of associated data.
PMID:31821406
HPO2Vec+: Leveraging heterogeneous knowledge resources to enrich node embeddings for the Human Phenotype Ontology.
PMID:31255713
PathoPhenoDB, linking human pathogens to their phenotypes in support of infectious disease research.
PMID:31160594
Trait ontology analysis based on association mapping studies bridges the gap between crop genomics and Phenomics.
PMID:31159731
Predicting disease-related phenotypes using an integrated phenotype similarity measurement based on HPO.
PMID:30953559
Quantitative evaluation of ontology design patterns for combining pathology and anatomy ontologies.
PMID:30858527
Ontology based text mining of gene-phenotype associations: application to candidate gene prediction.
PMID:30809638
Ontology-based semantic mapping of chemical toxicities.
PMID:30468866
Semantic Disease Gene Embeddings (SmuDGE): phenotype-based disease gene prioritization without phenotypes.
PMID:30423077
Ontology-based validation and identification of regulatory phenotypes.
PMID:30423068
An online tool for measuring and visualizing phenotype similarities using HPO.
PMID:30367579
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.
PMID:30279426
Leveraging Collaborative Filtering to Accelerate Rare Disease Diagnosis.
PMID:29854225
Inferring ontology graph structures using OWL reasoning.
PMID:29304741
Integrating phenotype ontologies with PhenomeNET.
PMID:29258588
Matching disease and phenotype ontologies in the ontology alignment evaluation initiative.
PMID:29197409
Interrogating Patient-level Genomics and Mouse Phenomics towards Understanding Cytokines in Colorectal Cancer Metastasis.
PMID:28815134
Semantic prioritization of novel causative genomic variants.
PMID:28414800
The anatomy of phenotype ontologies: principles, properties and applications.
PMID:28387809
Evaluating the effect of annotation size on measures of semantic similarity.
PMID:28193260
The Human Phenotype Ontology in 2017.
PMID:27899602
The flora phenotype ontology (FLOPO): tool for integrating morphological traits and phenotypes of vascular plants.
PMID:27842607
Drug repurposing for glioblastoma based on molecular subtypes.
PMID:27697594
Phenome-based gene discovery provides information about Parkinson's disease drug targets.
PMID:27586503
Towards precision medicine-based therapies for glioblastoma: interrogating human disease genomics and mouse phenotypes.
PMID:27557118
A Comprehensive Evaluation of Disease Phenotype Networks for Gene Prioritization.
PMID:27415759
An integer programming framework for inferring disease complexes from network data.
PMID:27307626
DermO; an ontology for the description of dermatologic disease.
PMID:27296450
Combining Human Disease Genetics and Mouse Model Phenotypes towards Drug Repositioning for Parkinson's disease.
PMID:26958284
Phenoscape: Identifying Candidate Genes for Evolutionary Phenotypes.
PMID:26500251
The digital revolution in phenotyping.
PMID:26420780
Applications of comparative evolution to human disease genetics.
PMID:26338499
Best behaviour? Ontologies and the formal description of animal behaviour.
PMID:26215546
Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics.
PMID:26214591
Using text mining techniques to extract phenotypic information from the PhenoCHF corpus.
PMID:26099853
ZFIN, The zebrafish model organism database: Updates and new directions.
PMID:26097180
Disease insights through cross-species phenotype comparisons.
PMID:26092691
Phenome-driven disease genetics prediction toward drug discovery.
PMID:26072493
Analysis of the human diseasome using phenotype similarity between common, genetic, and infectious diseases.
PMID:26051359
Capturing domain knowledge from multiple sources: the rare bone disorders use case.
PMID:25926964
Diverse array-designed modes of combination therapies in Fangjiomics.
PMID:25864646
The role of ontologies in biological and biomedical research: a functional perspective.
PMID:25863278
An ontology approach to comparative phenomics in plants.
PMID:25774204
Similarity-based search of model organism, disease and drug effect phenotypes.
PMID:25763178
HPOSim: an R package for phenotypic similarity measure and enrichment analysis based on the human phenotype ontology.
PMID:25664462
Dsp rul: a spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome.
PMID:25659760
PhenomeExpress: a refined network analysis of expression datasets by inclusion of known disease phenotypes.
PMID:25631385
Aber-OWL: a framework for ontology-based data access in biology.
PMID:25627673
Finding our way through phenotypes.
PMID:25562316
PhenUMA: a tool for integrating the biomedical relationships among genes and diseases.
PMID:25420641
Organ system heterogeneity DB: a database for the visualization of phenotypes at the organ system level.
PMID:25313158
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.
PMID:25186178
The influence of disease categories on gene candidate predictions from model organism phenotypes.
PMID:25093073
Using association rule mining to determine promising secondary phenotyping hypotheses.
PMID:24932005
MORPHIN: a web tool for human disease research by projecting model organism biology onto a human integrated gene network.
PMID:24861622
dRiskKB: a large-scale disease-disease risk relationship knowledge base constructed from biomedical text.
PMID:24725842
Phenotype ontologies and cross-species analysis for translational research.
PMID:24699242
Thematic series on biomedical ontologies in JBMS: challenges and new directions.
PMID:24602198
The Semanticscience Integrated Ontology (SIO) for biomedical research and knowledge discovery.
PMID:24602174
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
PMID:24217912
Inference of gene-phenotype associations via protein-protein interaction and orthology.
PMID:24194887
Mouse model phenotypes provide information about human drug targets.
PMID:24158600
Learning to recognize phenotype candidates in the auto-immune literature using SVM re-ranking.
PMID:24155869
The Drosophila phenotype ontology.
PMID:24138933
Automatically transforming pre- to post-composed phenotypes: EQ-lising HPO and MP.
PMID:24131519
Using ontologies to study cell transitions.
PMID:24103098
Toward knowledge support for analysis and interpretation of complex traits.
PMID:24079802
Manteia, a predictive data mining system for vertebrate genes and its applications to human genetic diseases.
PMID:24038354
The mouse pathology ontology, MPATH; structure and applications.
PMID:24033988
An integrative, translational approach to understanding rare and orphan genetically based diseases.
PMID:23853703
Towards building a disease-phenotype knowledge base: extracting disease-manifestation relationship from literature.
PMID:23828786
PhenoDigm: analyzing curated annotations to associate animal models with human diseases.
PMID:23660285
Fine mapping for Weaver syndrome in Brown Swiss cattle and the identification of 41 concordant mutations across NRCAM, PNPLA8 and CTTNBP2.
PMID:23527149
Decomposing phenotype descriptions for the human skeletal phenome.
PMID:23440304
Mining skeletal phenotype descriptions from scientific literature.
PMID:23409017
DcGO: database of domain-centric ontologies on functions, phenotypes, diseases and more.
PMID:23161684
Text-mining solutions for biomedical research: enabling integrative biology.
PMID:23150036
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.
PMID:23104991
Supervised segmentation of phenotype descriptions for the human skeletal phenome using hybrid methods.
PMID:23061930
The Units Ontology: a tool for integrating units of measurement in science.
PMID:23060432
Ontology-based cross-species integration and analysis of Saccharomyces cerevisiae phenotypes.
PMID:23046642
Towards improving phenotype representation in OWL.
PMID:23046625
Open biomedical pluralism: formalising knowledge about breast cancer phenotypes.
PMID:23046572
Quantitative comparison of mapping methods between Human and Mammalian Phenotype Ontology.
PMID:23046555
Evaluation of research in biomedical ontologies.
PMID:22962340
The Mammalian Phenotype Ontology as a unifying standard for experimental and high-throughput phenotyping data.
PMID:22961259
The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping.
PMID:22940749
Network medicine: linking disorders.
PMID:22825316
Computational tools for comparative phenomics: the role and promise of ontologies.
PMID:22814867
Co-clustering phenome-genome for phenotype classification and disease gene discovery.
PMID:22735708
Improving disease gene prioritization by comparing the semantic similarity of phenotypes in mice with those of human diseases.
PMID:22719993
Identifying aberrant pathways through integrated analysis of knowledge in pharmacogenomics.
PMID:22711793
Logical Gene Ontology Annotations (GOAL): exploring gene ontology annotations with OWL.
PMID:22541594
Mouse genetic and phenotypic resources for human genetics.
PMID:22422677
MouseFinder: Candidate disease genes from mouse phenotype data.
PMID:22331800
A comprehensive dataset of genes with a loss-of-function mutant phenotype in Arabidopsis.
PMID:22247268
Exploring the elephant: histopathology in high-throughput phenotyping of mutant mice.
PMID:22028326
New approaches to the representation and analysis of phenotype knowledge in human diseases and their animal models.
PMID:21987712