Paper Details

Paper Title

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.

Paper Journal Title

Genet Med

Paper Citation Count

Paper Publication Year

2016

Bio Mention

Exomiser, Human, UDP, Undiagnosed Diseases, disease-associated sequence variants, exome sequence, genetic disorders, human, patient, patients, seeded variant

Mesh Descriptor

Animals, Computational Biology, Databases, Genetic, Disease Models, Animal, Exome, Exome Sequencing, Genetic Association Studies, Genetic Variation, Humans, Mice, National Institutes of Health (U.S.), Patients, Phenotype, Rare Diseases, United States, Zebrafish

Author Name	Affiliation
William P Bone	National Institutes of Health
Nicole L Washington	Lawrence Berkeley National Laboratory
Nicole L Washington	Lawrence Berkeley National Laboratory
Orion J Buske	Centre for Computational Medicine Hospital for Sick Children
Orion J Buske	University of Toronto
Orion J Buske	Centre for Computational Medicine Hospital for Sick Children
Orion J Buske	University of Toronto
David R Adams	National Institutes of Health
David R Adams	National Human Genome Research Institute
David R Adams	National Institutes of Health
David R Adams	National Human Genome Research Institute
Joie Davis	National Institutes of Health
David Draper	National Institutes of Health
Elise Flynn	National Institutes of Health
Marta Girdea	Centre for Computational Medicine Hospital for Sick Children
Marta Girdea	University of Toronto
Rena Godfrey	National Institutes of Health
Gretchen Golas	National Institutes of Health
Catherine Groden	National Institutes of Health
Julius O B Jacobsen	Wellcome Trust Sanger Institute
Sebastian K??hler	Institute for Medical Genetics and Human Genetics, Charite-Universitatsmedizin Berlin
Sebastian K??hler	Institute for Medical Genetics and Human Genetics, Charite-Universitatsmedizin Berlin
Elizabeth Lee	National Institutes of Health
Amanda E Links	National Institutes of Health
Thomas C Markello	National Institutes of Health
Christopher J Mungall	Lawrence Berkeley National Laboratory
Christopher J Mungall	Lawrence Berkeley National Laboratory
Michele Nehrebecky	National Institutes of Health
Peter N Robinson	Institute for Medical Genetics and Human Genetics, Charite-Universitatsmedizin Berlin
Peter N Robinson	Institute for Medical Genetics and Human Genetics, Charite-Universitatsmedizin Berlin
Murat Sincan	National Institutes of Health
Ariane Soldatos	National Institutes of Health
Cynthia J Tifft	National Institutes of Health
Cynthia J Tifft	National Human Genome Research Institute
Cynthia J Tifft	National Institutes of Health
Cynthia J Tifft	National Human Genome Research Institute
Camilo Toro	National Institutes of Health
Heather Trang	University of Toronto
Heather Trang	Centre for Computational Medicine Hospital for Sick Children
Elise Valkanas	National Institutes of Health
Nicole Vasilevsky	Oregon Health & Science University
Nicole Vasilevsky	Oregon Health & Science University
Colleen Wahl	National Institutes of Health
Lynne A Wolfe	National Institutes of Health
Lynne A Wolfe	National Institutes of Health
Cornelius F Boerkoel	National Institutes of Health
Cornelius F Boerkoel	National Institutes of Health
Michael Brudno	Centre for Computational Medicine Hospital for Sick Children
Michael Brudno	University of Toronto
Melissa A Haendel	Oregon Health & Science University

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Dataset	Description	Source Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link

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