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Paper Details

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.
Sci Transl Med
186
2014
DAG, Human, Mendelian disease, Mendelian disease genes, Mendelian diseases, PhenIX, disease-associated genome, gene, genetic disease, patients
Computational Biology, Exome, Genetic Diseases, Inborn, Genome, Human, Humans, Mutation, Phenotype, Prospective Studies, Reproducibility of Results, Retrospective Studies
Author NameAffiliation
Tomasz ZemojtelInstitute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin, Germany. Institute of Bioorganic Chemistry, Polish Academy of Sciences
Sebastian K??hlerInstitute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin
Sebastian K??hlerInstitute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin
Luisa MackenrothInstitute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin
Marten J??gerInstitute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin
Jochen HechtMax Planck Institute for Molecular Genetics, Germany. Berlin-Brandenburg Center for Regenerative Therapies, Charite Universitatsmedizin Berlin
Peter M KrawitzInstitute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin, Germany. Max Planck Institute for Molecular Genetics
Luitgard Graul-NeumannInstitute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin
Sandra C DoelkenInstitute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin
Nadja EhmkeInstitute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin
Malte SpielmannInstitute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin, Germany. Max Planck Institute for Molecular Genetics
N Christine ??ienInstitute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin, Germany. Max Delbruck Center for Molecular Medicine
Michal R SchweigerInstitute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin, Germany. Max Planck Institute for Molecular Genetics, Germany. Cologne Center for Genomics, University of Cologne
Ulrike Kr??gerInstitute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin
G??tz Frommer
Bj??rn Fischer-ZirnsakInstitute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin, Germany. Max Planck Institute for Molecular Genetics
Uwe KornakInstitute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin, Germany. Max Planck Institute for Molecular Genetics
Ricarda Fl??ttmannInstitute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin
Amin ArdeshirdavaniSTADIUS Center for Dynamical Systems
Yves MoreauSTADIUS Center for Dynamical Systems
Yves MoreauSTADIUS Center for Dynamical Systems
Suzanna E LewisLawrence Berkeley National Laboratory
Suzanna E LewisLawrence Berkeley National Laboratory
Melissa A HaendelUniversity Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Sciences University
Melissa A HaendelUniversity Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Sciences University
Damian SmedleyWellcome Trust Sanger Institute
Denise HornInstitute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin
Stefan MundlosInstitute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin, Germany. Max Planck Institute for Molecular Genetics, Germany. Berlin-Brandenburg Center for Regenerative Therapies
Peter N RobinsonInstitute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin, Germany. Max Planck Institute for Molecular Genetics, Germany. Berlin-Brandenburg Center for Regenerative Therapies, Germany. Institute for Bioinformatics, Freie Universitat Berlin
Peter N RobinsonInstitute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin, Germany. Max Planck Institute for Molecular Genetics, Germany. Berlin-Brandenburg Center for Regenerative Therapies, Germany. Institute for Bioinformatics, Freie Universitat Berlin
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Datasets

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