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Paper Details

Matchmaker Exchange.
Curr Protoc Hum Genet
53
2017
MME, Patient, candidate genes, gene, genes, genome, patients, rare
Author NameAffiliation
Nara SobreiraMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University
Harindra ArachchiThe Broad Institute of MIT and Harvard
Harindra ArachchiThe Broad Institute of MIT and Harvard
Orion J BuskeHospital for Sick Children
Orion J BuskeHospital for Sick Children
Jessica X ChongUniversity of Washington
Jessica X ChongUniversity of Washington
Ben HuttonWellcome Trust Sanger Institute
Julia ForemanWellcome Trust Sanger Institute
Fran??ois SchiettecatteFS Consulting LLC
Tudor GrozaKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, The Kinghorn Cancer Centre
Tudor GrozaSt Vincent's Clinical School, University of New South Wales
Tudor GrozaKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, The Kinghorn Cancer Centre
Tudor GrozaSt Vincent's Clinical School, University of New South Wales
Julius O B JacobsenWilliam Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London
Melissa A HaendelDepartment of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University
Melissa A HaendelDepartment of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University
Kym M BoycottChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa
Ada HamoshMcKusick-Nathans Institute of Genetic Medicine (IGM), Clinical Director, OMIM. Johns Hopkins University. Baltimore
Heidi L RehmThe Broad Institute of MIT and Harvard
Heidi L RehmThe Broad Institute of MIT and Harvard
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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
DECIPHERDatabase of Chromosomal Imbalance and Phenotype in Humans Using Ensembl ResourcesLink
DECIPHERDatabase of Chromosomal Imbalance and Phenotype in Humans Using Ensembl ResourcesLink
DECIPHERDatabase of Chromosomal Imbalance and Phenotype in Humans Using Ensembl ResourcesLink