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Paper Details

An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Genes (Basel)
32
2020
Exomiser, HPO, Human, Patient, Rare Mendelian Variant, human, patient, patients, rare disease, rare retinal diseases, whole-exomes
Author NameAffiliation
Valentina CiprianiWilliam Harvey Research Institute, Queen Mary University of London
Valentina CiprianiUCL Institute of Ophthalmology, University College London
Valentina CiprianiMoorfields Eye Hospital NHS Foundation Trust
Valentina CiprianiUCL Genetics Institute, University College London
Nikolas PontikosUCL Institute of Ophthalmology, University College London
Nikolas PontikosMoorfields Eye Hospital NHS Foundation Trust
Gavin ArnoUCL Institute of Ophthalmology, University College London
Gavin ArnoMoorfields Eye Hospital NHS Foundation Trust
Gavin ArnoGreat Ormond Street Hospital NHS Trust
Panagiotis I SergouniotisManchester Royal Eye Hospital & University of Manchester
Daniel Danis
Michel MichaelidesUCL Institute of Ophthalmology, University College London
Michel MichaelidesMoorfields Eye Hospital NHS Foundation Trust
Andrew R WebsterUCL Institute of Ophthalmology, University College London
Andrew R WebsterMoorfields Eye Hospital NHS Foundation Trust
Anthony T MooreUCL Institute of Ophthalmology, University College London
Anthony T MooreMoorfields Eye Hospital NHS Foundation Trust
Anthony T MooreUCSF School of Medicine
Peter N Robinson
Peter N Robinson
Julius O B JacobsenWilliam Harvey Research Institute, Queen Mary University of London
Damian SmedleyWilliam Harvey Research Institute, Queen Mary University of London
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Datasets

Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink