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Journal / Genetics / Sequenziamento di nuova generazione e…
JoVE Journal
Genetics

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JoVE Journal Genetics
Sequenziamento di nuova generazione e bioinformatica Pipeline per valutare fattori determinanti genetici della malattia costituzionale mirati
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Sequenziamento di nuova generazione e bioinformatica Pipeline per valutare fattori determinanti genetici della malattia costituzionale mirati

Article DOI: 10.3791/57266-v • 09:34 min • April 4th, 2018
April 4th, 2018 •
1,2, 3, 4, 4, 5, 4, 1, 1, 6,7, 1, 1,8, 9,10, 6,7, 4, 10,11, 4,10, 12,13, 9, 14, 10,15, 9, 9,16, 1,2
1Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, 2Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, 3Analytic and Translational Genetics Unit, Center for Genomic Medicine, Harvard Medical School, Massachusetts General Hospital, Stanley Centre for Psychiatric Research, Broad Institute of MIT and Harvard, 4Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 5School of Medicine, Faculty of Health Sciences, Queen's University, 6Faculty of Medicine, Department of Biochemistry, Microbiology and Immunology, University of Ottawa, 7CHEO Research Institute, Faculty of Medicine, University of Ottawa, 8Department of Clinical Neurological Sciences, Western University, 9Division of Neurology, Department of Medicine, Sunnybrook Health Sciences Centre, University of Toronto, 10Division of Neurology, Department of Medicine, University of Toronto, 11Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, 12Department of Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, Western University, 13Parkwood Institute, St. Joseph's Health Care, 14Department of Medicine, Division of Neurology, McMaster University, 15Division of Neurology, Department of Medicine, Baycrest Health Sciences, 16Canadian Partnership for Stroke Recovery Sunnybrook Site, Sunnybrook Health Science Centre, University of Toronto

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Mirati sequenziamento di nuova generazione è un approccio di tempo e costo-efficiente che sta diventando sempre più popolare in diagnostica clinica e ricerca di malattia. Il protocollo descritto qui presenta il complesso flusso di lavoro richiesto per la sequenza e il processo di bioinformatica utilizzato per identificare varianti genetiche che contribuiscono alla malattia.

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Genetica problema 134 Next-generation sequencing mirati sequencing risequenziazione variante chiamata variante annotazione malattia costituzionale
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