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Real world outcomes and implementation pathways of exome sequencing in an adult genetic department
Authors:Maie Walsh  Kirsty West  Jessica A. Taylor  Bryony A. Thompson  Adelaide Hopkins  Adrienne Sexton  Abiramy Ragunathan  Kunal P. Verma  Julie Panetta  Ebony Matotek  Michael C. Fahey  Michael Christie  Ingrid M. Winship  Alison H. Trainer  Paul A. James
Affiliation:1. Genomic Medicine, The Royal Melbourne Hospital, Parkville, Victoria, Australia;2. Department of Medicine at Royal Melbourne Hospital, Melbourne Medical School, The University of Melbourne, Parkville, Victoria, Australia;3. Department of Pathology, The Royal Melbourne Hospital, Parkville, Victoria, Australia;4. Department of Clinical Pathology, Melbourne Medical School, The University of Melbourne, Parkville, Victoria, Australia;5. Metabolic Diseases Unit (MDU), The Royal Melbourne Hospital, Parkville, Victoria, Australia;1. Department of Medical Social Sciences, Feinberg School of Medicine, Northwestern University, Chicago, IL;2. The Comparative Health Outcomes, Policy & Economics (CHOICE) Institute and Department of Pharmacy, School of Pharmacy, University of Washington, Seattle, WA;3. Department of Health Systems and Population Health, School of Public Health, University of Washington, Seattle, WA;1. Division of Genomic Medicine, UC Davis Health MIND Institute, Department of Pediatrics, UC Davis Health, University of California, Davis, Sacramento, CA;2. Department of Ophthalmology and Vision Science, UC Davis Health, University of California, Davis, Sacramento, CA;3. Department of Pathology and Laboratory Medicine, UC Davis Health, University of California, Davis, Sacramento, CA;4. UC Davis Mouse Biology Program, University of California, Davis, Davis, CA;5. Department of Chemistry and Molecular Biology, University of Gothenburg, Gothenburg, Sweden;6. Department of Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia;7. Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;8. Roche Pharma Research and Early Development (pRED), Roche Innovation Center Munich (RICM), Penzberg, Germany;9. Division of Microbiology, Institute of Biology, University of Kassel, Kassel, Germany;10. GeneDx, Gaithersburg, MD;11. Division of Genetics, Brigham and Women''s Hospital, Boston, MA;12. Undiagnosed Diseases Network;13. Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA;14. Department of Obstetrics & Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;15. Division of Health Informatics, Department of Public Health Sciences, School of Medicine, University of California, Davis, Sacramento, CA;16. Department of Surgery, UC Davis Health, University of California, Davis, Sacramento, CA;1. Department of Genetics, Cell Biology, and Development, College of Biological Sciences, University of Minnesota, Minneapolis, MN;2. Department of Biology, Macalester College, Saint Paul, MN;3. Libraries, University of Minnesota, Minneapolis, MN;1. Memorial Sloan Kettering Cancer Center, New York, NY;2. Department of Pediatrics, Weill Cornell Medical College, New York, NY;3. Department of Population Health Sciences, Weill Cornell Medical College, New York, NY;4. Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA;1. University of North Carolina at Chapel Hill, Chapel Hill, NC;2. Birmingham Children’s Hospital NHS Foundation Trust, Birmingham, United Kingdom;3. Takeda Development Center Americas, Inc, Lexington, MA;4. Affinia Therapeutics, Waltham, MA;1. Institute for Human Genetics, University of California San Francisco, San Francisco, CA;2. Institute for Health & Aging, School of Nursing, University of California San Francisco, San Francisco, CA;3. Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California San Francisco, San Francisco, CA;4. Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA;5. Department of Social & Behavioral Sciences, School of Nursing, University of California San Francisco, San Francisco, CA
Abstract:
Keywords:Adult patients  Clinical utility  Exome sequencing
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