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The Clinical Application of RNA Sequencing in Genetic Diagnosis of Mendelian Disorders
Institution:1. Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Ismaninger Straße 22, 81675, Munich, Germany;2. Institute of Human Genetics, Helmholtz Zentrum München, Ingolstaedter Landstraße 1, 85764, Neuherberg, Germany;1. Stanford University School of Medicine, Room 1602, 3375 Hillview Avenue, Palo Alto, CA 94304, USA;2. Wadsworth Center, New York State Department of Health, 120 New Scotland Avenue, Albany, NY 12208, USA;3. University of South Florida College of Public Health and Morsani College of Medicine, 13201 Bruce B. Downs Boulevard, MDS 56, Tampa, FL 33612, USA;4. Roche Molecular Systems Inc., Pleasanton, CA 94588, USA;5. National Institutes of Health, Building 10, Room 2C-385, 10 Center Drive MSC 1508, Bethesda, MD 20892-1508, USA;1. University of Rochester Medical Center, Rochester, NY, USA;2. Department of Medicine, Nephrology (SMD), Clinical & Translational Science Institute, Clinical Research University of Rochester Medical Center, School of Medicine and Dentistry, 601 Elmwood Avenue, Box 675, Rochester, NY 14642, USA;1. Department of Surgery, The Vision Center, Children’s Hospital Los Angeles, Los Angeles, CA, USA;2. The Saban Research Institute, Children’s Hospital Los Angeles, Los Angeles, CA, USA;3. USC Roski Eye Institute, Keck School of Medicine, University of Southern California, 1450 San Pablo Street, Los Angeles, CA 90033, USA;1. Ragon Institute of MGH, MIT and Harvard, 400 Technology Square, Cambridge, MA 02139, USA;2. Division of Rheumatology, Faculty of Medicine and Health Sciences, Université de Sherbrooke;3. Centre de Recherche Clinique du Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Québec, Canada;4. Division of Rheumatology, Centre intégré universitaire de santé et de service sociaux de l’Estrie – Centre hospitalier universitaire de Sherbrooke (CIUSSS de l’Estrie-CHUS), 3001, 12th Avenue North, Room 3853, Sherbrooke, Québec J1H 5N4, Canada;5. Department of Pathology, Brigham and Women’s Hospital, 75 Francis Street, Armory 3, Boston, MA 02115, USA;1. Department of Laboratory Medicine and Pathobiology, University of Toronto, Medical Sciences Building, Room 6231, 1 King’s College Circle, Toronto, Ontario M5S 1A8, Canada;2. Department of Pathology and Laboratory Medicine, Children''s Hospital Los Angeles, Los Angeles, California 90027, USA;3. Department of Pathology, Keck School of Medicine of USC, Los Angeles, California 90033, USA
Abstract:
Keywords:RNA-seq  Genomic sequencing  Variant prioritization  Diagnostic yield
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