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Journal / Genetics / Dirigida tubería de Bioinformática y…
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Genetics

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JoVE Journal Genetics
Dirigida tubería de Bioinformática y secuenciación de próxima generación para evaluar determinantes genéticos de la enfermedad constitucional
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Dirigida tubería de Bioinformática y secuenciación de próxima generación para evaluar determinantes genéticos de la enfermedad constitucional

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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Secuenciación de próxima generación dirigido es un método tiempo y costo-eficiente que se está haciendo cada vez más popular en la investigación de la enfermedad y diagnóstico clínico. El protocolo descrito aquí presenta el complejo flujo de trabajo necesarios para la secuencia y el proceso de bioinformática para identificar variantes genéticas que contribuyen a la enfermedad.

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Genética número 134 última generación secuenciación dirigido secuenciación resecuenciación variante llamada anotación de variantes enfermedad constitucional
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