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Paper Details

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.
Am J Hum Genet
156
2016
Mendelian, Mendelian Disease, Mendelian disease, Mendelian diseases, Mendelian disorders, Pathogenic Regulatory Variants, chromosomal topological domains, non-coding genome, non-coding variants, regulatory sequences, regulatory variants
Algorithms, Gene Frequency, Genetic Diseases, Inborn, Genome, Human, Genome-Wide Association Study, Humans, Machine Learning, Mutation, Open Reading Frames, Phenotype, Point Mutation
Author NameAffiliation
Damian SmedleyQueen Mary University of London, UK Genomics England Ltd.
Max SchubachInstitute for Medical and Human Genetics, Charite-Universitatsmedizin Berlin
Julius O B JacobsenWellcome Trust Sanger Institute
Sebastian K??hlerInstitute for Medical and Human Genetics, Charite-Universitatsmedizin Berlin
Sebastian K??hlerInstitute for Medical and Human Genetics, Charite-Universitatsmedizin Berlin
Tomasz ZemojtelInstitute for Medical and Human Genetics, Charite-Universitatsmedizin Berlin, Germany Institute of Bioorganic Chemistry, Polish Academy of Sciences
Malte SpielmannInstitute for Medical and Human Genetics, Charite-Universitatsmedizin Berlin, Germany Max Planck Institute for Molecular Genetics
Marten J??gerInstitute for Medical and Human Genetics, Charite-Universitatsmedizin Berlin, Germany Berlin-Brandenburg Center for Regenerative Therapies (BCRT)
Harry HochheiserUniversity of Pittsburgh
Nicole L WashingtonLawrence Berkeley National Laboratory
Nicole L WashingtonLawrence Berkeley National Laboratory
Julie A McMurryDepartment of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University
Julie A McMurryDepartment of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University
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
Christopher J MungallLawrence Berkeley National Laboratory
Christopher J MungallLawrence Berkeley National Laboratory
Suzanna E LewisLawrence Berkeley National Laboratory
Suzanna E LewisLawrence Berkeley National Laboratory
Tudor GrozaKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Australia St Vincent's Clinical School, Faculty of Medicine University of New South Wales
Tudor GrozaKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Australia St Vincent's Clinical School, Faculty of Medicine University of New South Wales
Giorgio ValentiniUniversity of Milan
Peter N RobinsonInstitute for Medical and Human Genetics, Charite-Universitatsmedizin Berlin, Germany Max Planck Institute for Molecular Genetics, Germany Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Germany Institute for Bioinformatics, Freie Universitat Berlin
Peter N RobinsonInstitute for Medical and Human Genetics, Charite-Universitatsmedizin Berlin, Germany Max Planck Institute for Molecular Genetics, Germany Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Germany Institute for Bioinformatics, Freie Universitat Berlin
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