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Paper Details

Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes.
Am J Hum Genet
78
2018
EHR, HPO, Human, Mendelian disease, chronic kidney disease, exomes, genes, genomes, hereditary disorders, monogenic diseases
Author NameAffiliation
Liwei WangMayo Clinic
Feichen ShenMayo Clinic
Hongfang LiuMayo Clinic
Hongfang LiuMayo Clinic
Maddalena MarasaColumbia University
Krzysztof KirylukColumbia University
Krzysztof KirylukColumbia University
Ali G GharaviColumbia University
Wendy K ChungColumbia University
Wendy K ChungColumbia University
George HripcsakColumbia University
George HripcsakColumbia University
Carol FriedmanColumbia University
Carol FriedmanColumbia University
Chunhua WengColumbia University
Kai WangColumbia University, USA Institute for Genomic Medicine, USA Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania
Kai WangColumbia University, USA Institute for Genomic Medicine, USA Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania
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Datasets

Dataset
Description
Source Link
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
Release 1.2