The Xenopus phenotype ontology: bridging model organism phenotype data to human health and development.
PMID:35317743
Application of Whole Exome Sequencing and Functional Annotations to Identify Genetic Variants Associated with Marfan Syndrome.
PMID:35207686
FAIR data representation in times of eScience: a comparison of instance-based and class-based semantic representations of empirical data using phenotype descriptions as example.
PMID:34823588
Meta-analysis: Congruence of genomic and phenotypic differentiation across diverse natural study systems.
PMID:34603492
Allele-specific DNA methylation maps in monozygotic twins discordant for psychiatric disorders reveal that disease-associated switching at the EIPR1 regulatory loci modulates neural function.
PMID:33963283
Substrains matter in phenotyping of C57BL/6 mice.
PMID:33441510
Towards semantic interoperability: finding and repairing hidden contradictions in biomedical ontologies.
PMID:33319712
Integration of anatomy ontology data with protein-protein interaction networks improves the candidate gene prediction accuracy for anatomical entities.
PMID:33028186
Quantitative analysis of proteins which are members of the same protein complex but cause locus heterogeneity in disease.
PMID:32591566
Giant Island Mice Exhibit Widespread Gene Expression Changes in Key Metabolic Organs.
PMID:32531054
Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases.
PMID:32500119
BioHackathon 2015: Semantics of data for life sciences and reproducible research.
PMID:32308977
Supervised learning is an accurate method for network-based gene classification.
PMID:32129827
An atlas of evidence-based phenotypic associations across the mouse phenome.
PMID:32127602
p300 and cAMP response element-binding protein-binding protein in skeletal muscle homeostasis, contractile function, and survival.
PMID:31898871
Ontology-based prediction of cancer driver genes.
PMID:31757986
Disease gene prediction for molecularly uncharacterized diseases.
PMID:31276496
HPO2Vec+: Leveraging heterogeneous knowledge resources to enrich node embeddings for the Human Phenotype Ontology.
PMID:31255713
The Transcriptomic Toolbox: Resources for Interpreting Large Gene Expression Data within a Precision Medicine Context for Metabolic Disease Atherosclerosis.
PMID:31032818
A Bayesian framework that integrates multi-omics data and gene networks predicts risk genes from schizophrenia GWAS data.
PMID:30988527
Aligning the Aligners: Comparison of RNA Sequencing Data Alignment and Gene Expression Quantification Tools for Clinical Breast Cancer Research.
PMID:30987214
Multi-population GWAS and enrichment analyses reveal novel genomic regions and promising candidate genes underlying bovine milk fatty acid composition.
PMID:30841852
Incorporating Knowledge-Driven Insights into a Collaborative Filtering Model to Facilitate the Differential Diagnosis of Rare Diseases.
PMID:30815196
Integrated curation and data mining for disease and phenotype models at the Rat Genome Database.
PMID:30753478
DeepPVP: phenotype-based prioritization of causative variants using deep learning.
PMID:30727941
Ensembl variation resources.
PMID:30576484
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
PMID:30476213
A Review of Current Standards and the Evolution of Histopathology Nomenclature for Laboratory Animals.
PMID:30476141
Semantic Disease Gene Embeddings (SmuDGE): phenotype-based disease gene prioritization without phenotypes.
PMID:30423077
HPO2GO: prediction of human phenotype ontology term associations for proteins using cross ontology annotation co-occurrences.
PMID:30083448
A Single-Cell Atlas of In Vivo Mammalian Chromatin Accessibility.
PMID:30078704
Handling Complexity in Animal and Plant Science Research-From Single to Functional Traits: Are We There Yet?
PMID:29843407
A Primer for the Rat Genome Database (RGD).
PMID:29761460
Massive mining of publicly available RNA-seq data from human and mouse.
PMID:29636450
Where to search top-K biomedical ontologies?
PMID:29579141
InfAcrOnt: calculating cross-ontology term similarities using information flow by a random walk.
PMID:29363423
PhenoRank: reducing study bias in gene prioritization through simulation.
PMID:29360927
Improving the interoperability of biomedical ontologies with compound alignments.
PMID:29316968
Integrating phenotype ontologies with PhenomeNET.
PMID:29258588
Matching disease and phenotype ontologies in the ontology alignment evaluation initiative.
PMID:29197409
RNA-Sequencing Analysis Reveals a Regulatory Role for Transcription Factor Fezf2 in the Mature Motor Cortex.
PMID:28936162
Classification and analysis of a large collection of in vivo bioassay descriptions.
PMID:28678787
Epistatic Networks Jointly Influence Phenotypes Related to Metabolic Disease and Gene Expression in Diversity Outbred Mice.
PMID:28592500
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
PMID:28567303
The logic of transcriptional regulator recruitment architecture at cis-regulatory modules controlling liver functions.
PMID:28400425
Matrix Metalloproteinase-28 Is a Key Contributor to Emphysema Pathogenesis.
PMID:28399390
The anatomy of phenotype ontologies: principles, properties and applications.
PMID:28387809
GEN3VA: aggregation and analysis of gene expression signatures from related studies.
PMID:27846806
The flora phenotype ontology (FLOPO): tool for integrating morphological traits and phenotypes of vascular plants.
PMID:27842607
A Novel Drug-Mouse Phenotypic Similarity Method Detects Molecular Determinants of Drug Effects.
PMID:27673331
Network topology measures for identifying disease-gene association in breast cancer.
PMID:27454166
An integer programming framework for inferring disease complexes from network data.
PMID:27307626
Comprehensive coverage of cardiovascular disease data in the disease portals at the Rat Genome Database.
PMID:27287925
The cellular microscopy phenotype ontology.
PMID:27195102
RegenBase: a knowledge base of spinal cord injury biology for translational research.
PMID:27055827
The Disease Portals, disease-gene annotation and the RGD disease ontology at the Rat Genome Database.
PMID:27009807
Linking MedDRA(®)-Coded Clinical Phenotypes to Biological Mechanisms by the Ontology of Adverse Events: A Pilot Study on Tyrosine Kinase Inhibitors.
PMID:27003817
Reporting phenotypes in mouse models when considering body size as a potential confounder.
PMID:26865945
Genome-wide identification of copy number variation using high-density single-nucleotide polymorphism array in Japanese Black cattle.
PMID:26809925
Dintor: functional annotation of genomic and proteomic data.
PMID:26691694
PhenoMiner: from text to a database of phenotypes associated with OMIM diseases.
PMID:26507285
Phenotype-driven strategies for exome prioritization of human Mendelian disease genes.
PMID:26229552
Orthology for comparative genomics in the mouse genome database.
PMID:26223881
Mouse anatomy ontologies: enhancements and tools for exploring and integrating biomedical data.
PMID:26208972
Mouse Genome Database: From sequence to phenotypes and disease models.
PMID:26150326
Publisher’s Note:Abstraction for data integration:Fusing mammalian molecular, cellular and phenotype big datasets for better knowledge extraction.
PMID:26101093
Summarizing and visualizing structural changes during the evolution of biomedical ontologies using a Diff Abstraction Network.
PMID:26048076
Concept selection for phenotypes and diseases using learn to rank.
PMID:26034558
Capturing domain knowledge from multiple sources: the rare bone disorders use case.
PMID:25926964
Text mining in cancer gene and pathway prioritization.
PMID:25392685
MitProNet: A knowledgebase and analysis platform of proteome, interactome and diseases for mammalian mitochondria.
PMID:25347823
Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse.
PMID:25340873
Text mining and network analysis of molecular interaction in non-small cell lung cancer by using natural language processing.
PMID:25205120
Lean Big Data integration in systems biology and systems pharmacology.
PMID:25109570
Systematic analysis of gene properties influencing organ system phenotypes in mammalian perturbations.
PMID:25061072
A novel method for gathering and prioritizing disease candidate genes based on construction of a set of disease-related MeSH® terms.
PMID:24917541
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
PMID:24768552
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.
PMID:24721909
Phenotype ontologies and cross-species analysis for translational research.
PMID:24699242
Transcriptome profiling in engrailed-2 mutant mice reveals common molecular pathways associated with autism spectrum disorders.
PMID:24355397
Rat Strain Ontology: structured controlled vocabulary designed to facilitate access to strain data at RGD.
PMID:24267899
The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data.
PMID:24194600
Analyzing gene expression data in mice with the Neuro Behavior Ontology.
PMID:24177753
Improved exome prioritization of disease genes through cross-species phenotype comparison.
PMID:24162188
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
Automatically transforming pre- to post-composed phenotypes: EQ-lising HPO and MP.
PMID:24131519
Toward knowledge support for analysis and interpretation of complex traits.
PMID:24079802
EMAP/EMAPA ontology of mouse developmental anatomy: 2013 update.
PMID:23972281
The Vertebrate Trait Ontology: a controlled vocabulary for the annotation of trait data across species.
PMID:23937709
Rat Genome Database: a unique resource for rat, human, and mouse quantitative trait locus data.
PMID:23881287
An integrative, translational approach to understanding rare and orphan genetically based diseases.
PMID:23853703
Bioinformatics for spermatogenesis: annotation of male reproduction based on proteomics.
PMID:23852026
Analysis of disease-associated objects at the Rat Genome Database.
PMID:23794737
ESCAPE: database for integrating high-content published data collected from human and mouse embryonic stem cells.
PMID:23794736
A knowledge based approach to matching human neurodegenerative disease and animal models.
PMID:23717278
WEB-based GEne SeT AnaLysis Toolkit (WebGestalt): update 2013.
PMID:23703215
Chapter 15: disease gene prioritization.
PMID:23633938
Combining rules and machine learning for extraction of temporal expressions and events from clinical narratives.
PMID:23605114
PhenoMiner: quantitative phenotype curation at the rat genome database.
PMID:23603846
Decomposing phenotype descriptions for the human skeletal phenome.
PMID:23440304
Mining skeletal phenotype descriptions from scientific literature.
PMID:23409017
Exploring genetic, genomic, and phenotypic data at the rat genome database.
PMID:23255149
Semantically enabling a genome-wide association study database.
PMID:23244533
Transforming growth factor β signaling controls activities of human intestinal CD8(+)T suppressor cells.
PMID:23232296
An approach for the identification of targets specific to bone metastasis using cancer genes interactome and gene ontology analysis.
PMID:23166660
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
Continuation-like semantics for modeling structural process anomalies.
PMID:23046705
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
The Mammalian Phenotype Ontology as a unifying standard for experimental and high-throughput phenotyping data.
PMID:22961259
Computational tools for comparative phenomics: the role and promise of ontologies.
PMID:22814867
Improving disease gene prioritization by comparing the semantic similarity of phenotypes in mice with those of human diseases.
PMID:22719993
Three ontologies to define phenotype measurement data.
PMID:22654893
Logical Gene Ontology Annotations (GOAL): exploring gene ontology annotations with OWL.
PMID:22541594
Semantic integration of physiology phenotypes with an application to the Cellular Phenotype Ontology.
PMID:22539675
Ontology searching and browsing at the Rat Genome Database.
PMID:22434847
The mouse-human anatomy ontology mapping project.
PMID:22434834
A Resource of Quantitative Functional Annotation for Homo sapiens Genes.
PMID:22384401
Optimizing the phenotyping of rodent ASD models: enrichment analysis of mouse and human neurobiological phenotypes associated with high-risk autism genes identifies morphological, electrophysiological, neurological, and behavioral features.
PMID:22348382
Uberon, an integrative multi-species anatomy ontology.
PMID:22293552
Physical properties of biological entities: an introduction to the ontology of physics for biology.
PMID:22216106
cAMP response element-binding protein is a primary hub of activity-driven neuronal gene expression.
PMID:22171029
Proteins: form and function.
PMID:22095055
GeneWeaver: a web-based system for integrative functional genomics.
PMID:22080549
Exact score distribution computation for ontological similarity searches.
PMID:22078312
Improving ontologies by automatic reasoning and evaluation of logical definitions.
PMID:22032770
New approaches to the representation and analysis of phenotype knowledge in human diseases and their animal models.
PMID:21987712
GOMMA: a component-based infrastructure for managing and analyzing life science ontologies and their evolution.
PMID:21914205
Interoperability between biomedical ontologies through relation expansion, upper-level ontologies and automatic reasoning.
PMID:21789201
PhenomeNET: a whole-phenome approach to disease gene discovery.
PMID:21737429
A flexible framework for deriving assertions from electronic medical records.
PMID:21724741
A gene-phenotype network for the laboratory mouse and its implications for systematic phenotyping.
PMID:21625554
Rare structural variation of synapse and neurotransmission genes in autism.
PMID:21358714
Identification of Parkinson's disease candidate genes using CAESAR and screening of MAPT and SNCAIP in South African Parkinson's disease patients.
PMID:21344240
A common layer of interoperability for biomedical ontologies based on OWL EL.
PMID:21343142
Worm Phenotype Ontology: integrating phenotype data within and beyond the C. elegans community.
PMID:21261995
Characterization of the proteome, diseases and evolution of the human postsynaptic density.
PMID:21170055
Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes.
PMID:21147756
Functional genomics complements quantitative genetics in identifying disease-gene associations.
PMID:21085640
The RIKEN integrated database of mammals.
PMID:21076152
Laboratory mouse models for the human genome-wide associations.
PMID:21072174
Uncovering genes and regulatory pathways related to urinary albumin excretion.
PMID:21030601
DEGAS: de novo discovery of dysregulated pathways in human diseases.
PMID:20976054
Interoperability between phenotype and anatomy ontologies.
PMID:20971987
Improving disease gene prioritization using the semantic similarity of Gene Ontology terms.
PMID:20823322
Commentary: mouse genetic nomenclature. Standardization of strain, gene, and protein symbols.
PMID:20685919
OntoFox: web-based support for ontology reuse.
PMID:20569493
Phenoclustering: online mining of cross-species phenotypes.
PMID:20562418
PhenoHM: human-mouse comparative phenome-genome server.
PMID:20507906
Phenotype ontologies for mouse and man: bridging the semantic gap.
PMID:20427557
Two approaches to integrating phenotype and clinical information.
PMID:20351826
Towards the integration of mouse databases - definition and implementation of solutions to two use-cases in mouse functional genomics.
PMID:20205870
Gene prioritization and clustering by multi-view text mining.
PMID:20074336
Integrating phenotype ontologies across multiple species.
PMID:20064205
The mammalian phenotype ontology: enabling robust annotation and comparative analysis.
PMID:20052305
Advances in translational bioinformatics: computational approaches for the hunting of disease genes.
PMID:20007728
Entity/quality-based logical definitions for the human skeletal phenome using PATO.
PMID:19964203
The rat genome database curators: who, what, where, why.
PMID:19956751
EuroPhenome: a repository for high-throughput mouse phenotyping data.
PMID:19933761
Looking at cerebellar malformations through text-mined interactomes of mice and humans.
PMID:19893633
The Mouse Genome Database: enhancements and updates.
PMID:19864252
MouseBook: an integrated portal of mouse resources.
PMID:19854936
EMMA--mouse mutant resources for the international scientific community.
PMID:19783817
Ontological Discovery Environment: a system for integrating gene-phenotype associations.
PMID:19733230
Linking genes to diseases: it's all in the data.
PMID:19678910
Mouse, man, and meaning: bridging the semantics of mouse phenotype and human disease.
PMID:19649761
Annotating the human genome with Disease Ontology.
PMID:19594883
Open Biomedical Ontology-based Medline exploration.
PMID:19426463
Practical application of ontologies to annotate and analyse large scale raw mouse phenotype data.
PMID:19426459
PhenoGO: an integrated resource for the multiscale mining of clinical and biological data.
PMID:19208196
Identification of candidate disease genes by integrating Gene Ontologies and protein-interaction networks: case study of primary immunodeficiencies.
PMID:19073697
Removing the cloak of invisibility: phenotyping the mouse.
PMID:19048073
The Rat Genome Database 2009: variation, ontologies and pathways.
PMID:18996890
The Mouse Genome Database genotypes::phenotypes.
PMID:18981050
Information-based methods for predicting gene function from systematic gene knock-downs.
PMID:18959798
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.
PMID:18950739
Meta-analysis and profiling of cardiac expression modules.
PMID:18780758
Comprehensive association study of type 2 diabetes and related quantitative traits with 222 candidate genes.
PMID:18678618
An en masse phenotype and function prediction system for Mus musculus.
PMID:18613952
What everybody should know about the rat genome and its online resources.
PMID:18443589
The Mouse Tumor Biology database.
PMID:18432250
Animal trait ontology: The importance and usefulness of a unified trait vocabulary for animal species.
PMID:18272850
The Mouse Genome Database (MGD): mouse biology and model systems.
PMID:18158299
Automated acquisition of disease drug knowledge from biomedical and clinical documents: an initial study.
PMID:17947625
Improved human disease candidate gene prioritization using mouse phenotype.
PMID:17939863
MUGEN mouse database; animal models of human immunological diseases.
PMID:17932065
Representing default knowledge in biomedical ontologies: application to the integration of anatomy and phenotype ontologies.
PMID:17925014
EuroPhenome and EMPReSS: online mouse phenotyping resource.
PMID:17905814
Celsius: a community resource for Affymetrix microarray data.
PMID:17570842
MPHASYS: a mouse phenotype analysis system.
PMID:17553167
Requirements and ontology for a G protein-coupled receptor oligomerization knowledge base.
PMID:17537266
Mouse Phenotype Database Integration Consortium: integration [corrected] of mouse phenome data resources.
PMID:17436037
New genes in the evolution of the neural crest differentiation program.
PMID:17352807
GenomeTrafac: a whole genome resource for the detection of transcription factor binding site clusters associated with conventional and microRNA encoding genes conserved between mouse and human gene orthologs.
PMID:17178752
The Rat Genome Database, update 2007--easing the path from disease to data and back again.
PMID:17151068
PolyDoms: a whole genome database for the identification of non-synonymous coding SNPs with the potential to impact disease.
PMID:17142238
PhenoGO: assigning phenotypic context to gene ontology annotations with natural language processing.
PMID:17094228
PhenomicDB: a new cross-species genotype/phenotype resource.
PMID:16982638
Understanding mammalian genetic systems: the challenge of phenotyping in the mouse.
PMID:16933996
Bio-Ontology and text: bridging the modeling gap.
PMID:16870928
Combining gene expression QTL mapping and phenotypic spectrum analysis to uncover gene regulatory relationships.
PMID:16783639
OMIA (Online Mendelian Inheritance in Animals): an enhanced platform and integration into the Entrez search interface at NCBI.
PMID:16381939
The Adult Mouse Anatomical Dictionary: a tool for annotating and integrating data.
PMID:15774030
Using ontologies to describe mouse phenotypes.
PMID:15642100