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Paper Details

Use of model organism and disease databases to support matchmaking for human disease gene discovery.
Hum Mutat
23
2015
biomedical, human, patient, patients
Animals, Databases, Genetic, Disease, Disease Models, Animal, Genetic Predisposition to Disease, Genetic Variation, Humans, Information Dissemination, Phenotype, User-Computer Interface
Author NameAffiliation
Christopher J MungallLawrence Berkeley National Laboratory
Christopher J MungallLawrence Berkeley National Laboratory
Nicole L WashingtonLawrence Berkeley National Laboratory
Nicole L WashingtonLawrence Berkeley National Laboratory
Jeremy Nguyen-XuanLawrence Berkeley National Laboratory
Christopher Condituniversity of california san diego
Christopher Condituniversity of california san diego
Damian SmedleyWellcome Trust Sanger Institute
Sebastian K??hlerCharite - Universitatsmedizin Berlin, Institute for Medical and Human Genetics
Sebastian K??hlerCharite - Universitatsmedizin Berlin, Institute for Medical and Human Genetics
Tudor GrozaKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research
Tudor GrozaKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research
Kent ShefchekDepartment of Biomedical Informatics and Clinical Epidemiology, Oregon Health and Science University
Kent ShefchekDepartment of Biomedical Informatics and Clinical Epidemiology, Oregon Health and Science University
Harry HochheiserUniversity of Pittsburgh
Peter N RobinsonCharite - Universitatsmedizin Berlin, Institute for Medical and Human Genetics
Peter N RobinsonCharite - Universitatsmedizin Berlin, Institute for Medical and Human Genetics
Suzanna E LewisLawrence Berkeley National Laboratory
Suzanna E LewisLawrence Berkeley National Laboratory
Melissa A HaendelDepartment of Biomedical Informatics and Clinical Epidemiology, Oregon Health and Science University
Melissa A HaendelDepartment of Biomedical Informatics and Clinical Epidemiology, Oregon Health and Science University
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Datasets

Monarch InitiativeThe Monarch Initiative is an integrative data and analytic platform connecting phenotypes to genotypes across species, bridging basic and applied research with semantics-based analysis. The correlation of phenotypic outcomes and disease with genetic variation and environmental factors is a core pursuit in biology and biomedicine. We have created or currently contribute to many essential bio-ontologies that together enable sophisticated and semantically integrated computational analysis across gene, genotype, variant, disease, and phenotype data. We have developed algorithms and tools that are in use by multiple communities for tasks including the identification of animal models of human disease through phenotypic similarity, phenotype-driven computational support for differential diagnostics, and translational research.Link
Monarch InitiativeHuman disease-related phenotypes in model organismsLink
Monarch InitiativeThe Monarch Initiative is an integrative data and analytic platform connecting phenotypes to genotypes across species, bridging basic and applied research with semantics-based analysis. The correlation of phenotypic outcomes and disease with genetic variation and environmental factors is a core pursuit in biology and biomedicine. We have created or currently contribute to many essential bio-ontologies that together enable sophisticated and semantically integrated computational analysis across gene, genotype, variant, disease, and phenotype data. We have developed algorithms and tools that are in use by multiple communities for tasks including the identification of animal models of human disease through phenotypic similarity, phenotype-driven computational support for differential diagnostics, and translational research.Link
Monarch InitiativeThe Monarch Initiative is an integrative data and analytic platform connecting phenotypes to genotypes across species, bridging basic and applied research with semantics-based analysis. The correlation of phenotypic outcomes and disease with genetic variation and environmental factors is a core pursuit in biology and biomedicine. We have created or currently contribute to many essential bio-ontologies that together enable sophisticated and semantically integrated computational analysis across gene, genotype, variant, disease, and phenotype data. We have developed algorithms and tools that are in use by multiple communities for tasks including the identification of animal models of human disease through phenotypic similarity, phenotype-driven computational support for differential diagnostics, and translational research.Link
Monarch InitiativeThe Monarch Initiative is an integrative data and analytic platform connecting phenotypes to genotypes across species, bridging basic and applied research with semantics-based analysis. The correlation of phenotypic outcomes and disease with genetic variation and environmental factors is a core pursuit in biology and biomedicine. We have created or currently contribute to many essential bio-ontologies that together enable sophisticated and semantically integrated computational analysis across gene, genotype, variant, disease, and phenotype data. We have developed algorithms and tools that are in use by multiple communities for tasks including the identification of animal models of human disease through phenotypic similarity, phenotype-driven computational support for differential diagnostics, and translational research.Link
Monarch InitiativeThe Monarch Initiative is an integrative data and analytic platform connecting phenotypes to genotypes across species, bridging basic and applied research with semantics-based analysis. The correlation of phenotypic outcomes and disease with genetic variation and environmental factors is a core pursuit in biology and biomedicine. We have created or currently contribute to many essential bio-ontologies that together enable sophisticated and semantically integrated computational analysis across gene, genotype, variant, disease, and phenotype data. We have developed algorithms and tools that are in use by multiple communities for tasks including the identification of animal models of human disease through phenotypic similarity, phenotype-driven computational support for differential diagnostics, and translational research.Link
Monarch InitiativeHuman disease-related phenotypes in model organismsLink
Monarch InitiativeHuman disease-related phenotypes in model organismsLink
Monarch InitiativeThe Monarch Initiative is an integrative data and analytic platform connecting phenotypes to genotypes across species, bridging basic and applied research with semantics-based analysis. The correlation of phenotypic outcomes and disease with genetic variation and environmental factors is a core pursuit in biology and biomedicine. We have created or currently contribute to many essential bio-ontologies that together enable sophisticated and semantically integrated computational analysis across gene, genotype, variant, disease, and phenotype data. We have developed algorithms and tools that are in use by multiple communities for tasks including the identification of animal models of human disease through phenotypic similarity, phenotype-driven computational support for differential diagnostics, and translational research.Link
Monarch InitiativeThe Monarch Initiative is an integrative data and analytic platform connecting phenotypes to genotypes across species, bridging basic and applied research with semantics-based analysis. The correlation of phenotypic outcomes and disease with genetic variation and environmental factors is a core pursuit in biology and biomedicine. We have created or currently contribute to many essential bio-ontologies that together enable sophisticated and semantically integrated computational analysis across gene, genotype, variant, disease, and phenotype data. We have developed algorithms and tools that are in use by multiple communities for tasks including the identification of animal models of human disease through phenotypic similarity, phenotype-driven computational support for differential diagnostics, and translational research.Link
Monarch InitiativeHuman disease-related phenotypes in model organismsLink
Monarch InitiativeThe Monarch Initiative is an integrative data and analytic platform connecting phenotypes to genotypes across species, bridging basic and applied research with semantics-based analysis. The correlation of phenotypic outcomes and disease with genetic variation and environmental factors is a core pursuit in biology and biomedicine. We have created or currently contribute to many essential bio-ontologies that together enable sophisticated and semantically integrated computational analysis across gene, genotype, variant, disease, and phenotype data. We have developed algorithms and tools that are in use by multiple communities for tasks including the identification of animal models of human disease through phenotypic similarity, phenotype-driven computational support for differential diagnostics, and translational research.Link