Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research.
about
The Human Phenotype Ontology: Semantic Unification of Common and Rare DiseaseImproved exome prioritization of disease genes through cross-species phenotype comparisonCapturing phenotypes for precision medicineDisease insights through cross-species phenotype comparisonsThe Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataThe Human Phenotype Ontology in 2017Applications of comparative evolution to human disease geneticsThe Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across speciesThe flora phenotype ontology (FLOPO): tool for integrating morphological traits and phenotypes of vascular plantsThe role of ontologies in biological and biomedical research: a functional perspectiveClinical interpretation of CNVs with cross-species phenotype dataAber-OWL: a framework for ontology-based data access in biologyNeuroinformatic analyses of common and distinct genetic components associated with major neuropsychiatric disordersPhenotype ontologies and cross-species analysis for translational researchComputational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.Drug-induced adverse events prediction with the LINCS L1000 dataA dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.The ontology of craniofacial development and malformation for translational craniofacial researchNext-generation diagnostics and disease-gene discovery with the ExomiserUse of model organism and disease databases to support matchmaking for human disease gene discovery.Deletions of chromosomal regulatory boundaries are associated with congenital disease.Cross-organism analysis using InterMine.Finding our way through phenotypes.Automatic concept recognition using the human phenotype ontology reference and test suite corpora.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 profilesNavigating the Phenotype Frontier: The Monarch InitiativePhenotype Similarity Regression for Identifying the Genetic Determinants of Rare DiseasesThe cellular microscopy phenotype ontologyThe digital revolution in phenotyping.Exome sequencing for gene discovery in lethal fetal disorders--harnessing the value of extreme phenotypes.The zebrafish anatomy and stage ontologies: representing the anatomy and development of Danio rerio.PhenomeScape: a cytoscape app to identify differentially regulated sub-networks using known disease associations.PhenomeExpress: a refined network analysis of expression datasets by inclusion of known disease phenotypes.Integrating phenotype ontologies with PhenomeNET.PhenoRank: reducing study bias in gene prioritisation through simulation.
P2860
Q21819337-D8444537-1E32-4A29-AAD1-241502C32BEBQ23815226-72EB776A-3ACA-40EA-B7CA-19A5CAF1D8B2Q23815245-05E7E41B-8CB9-453B-9AB4-F72F43372C44Q26998575-89DFC583-2615-4EFC-B37D-A5D5FA8FEFE7Q27927005-BD9327B0-F4B5-4862-9662-80F5C682A871Q27927007-36005F41-271A-4594-95B1-0CB2C7D8F586Q28083558-64B080A2-7499-4445-903A-975E1DB0A580Q28584446-F9355854-DEA9-4994-922C-FC0DE9A542C3Q28595744-58A7B78A-F575-42A5-886E-8599348842CDQ28607224-69D2A712-94F3-4B31-90B4-DDE1917FB894Q28647107-B58E0A83-A601-42A5-AEAA-E43BD307672FQ28650429-919BA79E-6A69-4778-8112-A71D8EACE158Q29396093-23593F01-FF2D-4AFA-BE51-E8260D87EF8EQ30440406-97AC727A-CF7D-4915-997C-59FE5484D8A5Q31022262-E1E0B450-6C01-4542-8F09-2937FB871578Q31092242-CB982014-7A26-4EB8-8F51-A04C0B1C55E6Q33430459-C921B944-7A91-4693-945D-C862529D28B3Q33699401-E4A8EFC4-DE00-4722-A832-BA165E9F4E7FQ33787807-FF5B9DDB-FC12-4CC4-BF53-48E7DB38D718Q33806132-71A725B2-7322-4419-934B-61516B177E7BQ34271260-49BE441F-6EFC-43DA-983B-40E31DD01447Q34481688-A181033D-41D5-45E4-84B8-62F104685233Q34846186-28A05E36-596E-481A-B825-49DE403DAAFAQ35128727-50B42599-CA17-4CF7-A2ED-B2E59EFCC835Q35745726-D49D484C-33DD-4218-9F9C-2CF17BCCEA50Q35927149-56F8BCAF-BCF3-4261-890E-058FDFBA3C8EQ36102424-B1A5DD46-4910-4141-BD1A-2FCAD30304B2Q36785347-C0805111-20AE-4D99-96E3-2F52479A19ABQ36911177-6B0517D7-2D27-4924-8786-B8CB7B9D36C4Q37284033-120647F7-DC51-4A07-BD44-DDFDB83B830BQ38232194-D6AE819C-A06C-48E8-B7B9-8EEF0C077035Q38435490-AD9BA099-B33C-429E-A725-E53DC733A75FQ39331895-70688BA1-AD2F-4B50-A07C-607F9BD6D7A6Q39913649-ED88085D-DCCD-4D7E-A2AF-C25973768234Q47107332-925B2350-C9E1-45E0-8F08-37FF05102BA0Q53269083-58AA2062-3CFB-4BB0-8EA3-56EAAF8E6171
P2860
Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research.
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
Construction and accessibility ...... tions for biomedical research.
@en
type
label
Construction and accessibility ...... tions for biomedical research.
@en
prefLabel
Construction and accessibility ...... tions for biomedical research.
@en
P2093
P2860
P50
P1433
P1476
Construction and accessibility ...... tions for biomedical research.
@en
P2093
Barbara J Ruef
George Gkoutos
Monte Westerfield
Paul Schofield
Sandra C Doelken
Sebastian Bauer
Suzanna E Lewis
P2860
P356
10.12688/F1000RESEARCH.2-30.V2
P577
2013-02-01T00:00:00Z