PhenoDigm: analyzing curated annotations to associate animal models with human diseases.
about
The Human Phenotype Ontology: Semantic Unification of Common and Rare DiseaseUnification of multi-species vertebrate anatomy ontologies for comparative biology in UberonImproved exome prioritization of disease genes through cross-species phenotype comparisonReporting phenotypes in mouse models when considering body size as a potential confounderPhenotype-driven strategies for exome prioritization of human Mendelian disease genes.Disease insights through cross-species phenotype comparisonsApplying the ARRIVE Guidelines to an In Vivo DatabaseThe Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataThe Human Phenotype Ontology in 2017Applications of comparative evolution to human disease geneticsAn Integrated Data Driven Approach to Drug Repositioning Using Gene-Disease AssociationsThe Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across speciesLearning to recognize phenotype candidates in the auto-immune literature using SVM re-rankingPhenotype ontologies and cross-species analysis for translational researchPhenoMiner: from text to a database of phenotypes associated with OMIM diseases.Harnessing public domain data to discover and validate therapeutic targets.WormQTLHD--a web database for linking human disease to natural variation data in C. elegans.Allele, phenotype and disease data at Mouse Genome Informatics: improving access and analysisComputational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.Thematic series on biomedical ontologies in JBMS: challenges and new directions.Using association rule mining to determine promising secondary phenotyping hypothesesPhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseasesNext-generation diagnostics and disease-gene discovery with the ExomiserUse of model organism and disease databases to support matchmaking for human disease gene discovery.MORPHIN: a web tool for human disease research by projecting model organism biology onto a human integrated gene network.The influence of disease categories on gene candidate predictions from model organism phenotypes.Finding our way through phenotypes.HPOSim: an R package for phenotypic similarity measure and enrichment analysis based on the human phenotype ontology.A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.Automatic concept recognition using the human phenotype ontology reference and test suite corpora.An ontology approach to comparative phenomics in plantsINFRAFRONTIER--providing mutant mouse resources as research tools for the international scientific community.Dsp rul: a spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome.Linking gene expression to phenotypes via pathway information.OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization.GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profilesZFIN, The zebrafish model organism database: Updates and new directions.Navigating the Phenotype Frontier: The Monarch InitiativeA mouse informatics platform for phenotypic and translational discovery.Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways.
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PhenoDigm: analyzing curated annotations to associate animal models with human diseases.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
PhenoDigm: analyzing curated annotations to associate animal models with human diseases.
@en
type
label
PhenoDigm: analyzing curated annotations to associate animal models with human diseases.
@en
prefLabel
PhenoDigm: analyzing curated annotations to associate animal models with human diseases.
@en
P2093
P2860
P50
P356
P1433
P1476
PhenoDigm: analyzing curated annotations to associate animal models with human diseases.
@en
P2093
Monte Westerfield
Sanger Mouse Genetics Project
Suzanna Lewis
P2860
P304
P356
10.1093/DATABASE/BAT025
P50
P577
2013-05-09T00:00:00Z