PhenoDigm
Analyzing curated annotations to associate animal models with human diseases.
Description
More detailed information about this field from each metasource.
Analyzing curated annotations to associate animal models with human diseases.
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:33:19.169917
Webpage:
https://www.sanger.ac.uk/science/tools/phenodigmWebpage
More detailed information about this field from each metasource.
https://www.sanger.ac.uk/science/tools/phenodigm
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:33:19.169917
Publications:
Publications
More detailed information about this field from each metasource.
PhenoDigm: analyzing curated annotations to associate animal models with human diseases
PMID: 23660285
metasource: bio.tools
version: extracted_at: 2022-11-04T11:33:19.169917
Publications
More detailed information about this field from each metasource.
PhenoDigm: analyzing curated annotations to associate animal models with human diseases
PMID: 23660285
metasource: bio.tools
version: extracted_at: 2022-11-04T11:33:19.169917
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PhenoDigm: analyzing curated annotations to associate animal models with human diseases
PubMed citations: 78.
78 articles citing: PhenoDigm: analyzing curated annotations to associate animal models with human diseases
Evolutionary rewiring of regulatory networks contributes to phenotypic differences between human and mouse orthologous genes. PMID:35137181
Evaluating semantic similarity methods for comparison of text-derived phenotype profiles. PMID:35123470
DeepSVP: Integration of genotype and phenotype for structural variant prioritization using deep learning. PMID:34951628
Effects of Negation and Uncertainty Stratification on Text-Derived Patient Profile Similarity. PMID:34939069
Dimensional reduction of phenotypes from 53 000 mouse models reveals a diverse landscape of gene function. PMID:34870209
Mouse Genome Informatics (MGI): latest news from MGD and GXD. PMID:34698891
Pleiotropy data resource as a primer for investigating co-morbidities/multi-morbidities and their role in disease. PMID:34524473
Diffusion enables integration of heterogeneous data and user-driven learning in a desktop knowledge-base. PMID:34379637
Establishment and application of information resource of mutant mice in RIKEN BioResource Research Center. PMID:33455583
Predicting candidate genes from phenotypes, functions and anatomical site of expression. PMID:33051643
Semantic similarity and machine learning with ontologies. PMID:33049044
Interpretation of psychiatric genome-wide association studies with multispecies heterogeneous functional genomic data integration. PMID:32791514
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data. PMID:32340307
TarGo: network based target gene selection system for human disease related mouse models. PMID:32257911
An atlas of evidence-based phenotypic associations across the mouse phenome. PMID:32127602
Human and mouse essentiality screens as a resource for disease gene discovery. PMID:32005800
Incremental data integration for tracking genotype-disease associations. PMID:31986132
Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery. PMID:31735951
HPO2Vec+: Leveraging heterogeneous knowledge resources to enrich node embeddings for the Human Phenotype Ontology. PMID:31255713
New models for human disease from the International Mouse Phenotyping Consortium. PMID:31127358
Ontology based text mining of gene-phenotype associations: application to candidate gene prediction. PMID:30809638
A large-scale dataset of in vivo pharmacology assay results. PMID:30351302
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants. PMID:30279426
matchbox: An open-source tool for patient matching via the Matchmaker Exchange. PMID:30240502
The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation. PMID:30100824
HPO2GO: prediction of human phenotype ontology term associations for proteins using cross ontology annotation co-occurrences. PMID:30083448
[From symptom to syndrome using modern software support]. PMID:29995249
Mouse phenotyping sheds light on rare disease. PMID:28898215
Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium. PMID:28650483
The anatomy of phenotype ontologies: principles, properties and applications. PMID:28387809
PCAN: phenotype consensus analysis to support disease-gene association. PMID:27923364
Open Targets: a platform for therapeutic target identification and validation. PMID:27899665
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species. PMID:27899636
The Human Phenotype Ontology in 2017. PMID:27899602
Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways. PMID:27788187
Navigating the Phenotype Frontier: The Monarch Initiative. PMID:27516611
An Integrated Data Driven Approach to Drug Repositioning Using Gene-Disease Associations. PMID:27196054
Reporting phenotypes in mouse models when considering body size as a potential confounder. PMID:26865945
Next-generation diagnostics and disease-gene discovery with the Exomiser. PMID:26562621
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency. PMID:26562225
PhenoMiner: from text to a database of phenotypes associated with OMIM diseases. PMID:26507285
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. PMID:26437029
The digital revolution in phenotyping. PMID:26420780
Applications of comparative evolution to human disease genetics. PMID:26338499
A mouse informatics platform for phenotypic and translational discovery. PMID:26314589
OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization. PMID:26272982
Use of model organism and disease databases to support matchmaking for human disease gene discovery. PMID:26269093
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases. PMID:26251998
Phenotype-driven strategies for exome prioritization of human Mendelian disease genes. PMID:26229552
Human phenotyping on a population scale. PMID:26226359
Allele, phenotype and disease data at Mouse Genome Informatics: improving access and analysis. PMID:26162703
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease. PMID:26119816
ZFIN, The zebrafish model organism database: Updates and new directions. PMID:26097180
Disease insights through cross-species phenotype comparisons. PMID:26092691
Applying the ARRIVE Guidelines to an In Vivo Database. PMID:25992600
Linking gene expression to phenotypes via pathway information. PMID:25901272
GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profiles. PMID:25861967
An ontology approach to comparative phenomics in plants. PMID:25774204
Similarity-based search of model organism, disease and drug effect phenotypes. PMID:25763178
Automatic concept recognition using the human phenotype ontology reference and test suite corpora. PMID:25725061
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
Finding our way through phenotypes. PMID:25562316
INFRAFRONTIER--providing mutant mouse resources as research tools for the international scientific community. PMID:25414328
The role of protein interaction networks in systems biomedicine. PMID:25379140
The influence of disease categories on gene candidate predictions from model organism phenotypes. PMID:25093073
Unification of multi-species vertebrate anatomy ontologies for comparative biology in Uberon. PMID:25009735
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
Phenotype ontologies and cross-species analysis for translational research. PMID:24699242
Linking tissues to phenotypes using gene expression profiles. PMID:24634472
Thematic series on biomedical ontologies in JBMS: challenges and new directions. PMID:24602198
The zebrafish anatomy and stage ontologies: representing the anatomy and development of Danio rerio. PMID:24568621
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. PMID:24358150
WormQTLHD--a web database for linking human disease to natural variation data in C. elegans. PMID:24217915
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. PMID:24217912
Improved exome prioritization of disease genes through cross-species phenotype comparison. PMID:24162188
Learning to recognize phenotype candidates in the auto-immune literature using SVM re-ranking. PMID:24155869
Tags:
Tags
More detailed information about this field from each metasource.
pathology
metasource: bio.tools
version: extracted_at: 2022-11-04T11:33:19.169917
zoology
metasource: bio.tools
version: extracted_at: 2022-11-04T11:33:19.169917
human biology
metasource: bio.tools
version: extracted_at: 2022-11-04T11:33:19.169917
Tags
More detailed information about this field from each metasource.
pathology
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:33:19.169917
zoology
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:33:19.169917
human biology
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:33:19.169917
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