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Paper Details

Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.
Am J Hum Genet
46
2020
HPO, Human, genes, rare diseases
Algorithms, Computational Biology, Databases, Genetic, Exome, Genomics, Humans, Phenotype, Rare Diseases, Software
Author NameAffiliation
Peter N RobinsonUSA Institute for Systems Genomics, University of Connecticut
Peter N RobinsonUSA Institute for Systems Genomics, University of Connecticut
Vida Ravanmehr
Julius O B JacobsenWilliam Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London
Daniel Danis
Xingmin Aaron Zhang
Leigh C Carmody
Leigh C Carmody
Michael Gargano
Courtney ThaxtonUniversity of North Carolina
Guy Karlebach
Justin T ReeseLawrence Berkeley National Laboratory
Manuel HoltgreweCharite Universitatsmedizin Berlin
Sebastian K??hlerCharite Universitatsmedizin Berlin
Julie A McMurryOregon State University
Julie A McMurryOregon State University
Melissa A HaendelOregon State University
Melissa A HaendelOregon State University
Damian SmedleyWilliam Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London
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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