Sequenziamento di nuova generazione e bioinformatica Pipeline per valutare fattori determinanti genetici della malattia costituzionale mirati
36.4K visualizzazioni
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Citato da 41
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09:34 min.
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4 aprile 2018
DOI :10.3791/57266-v
4 aprile 2018
•36.4K visualizzazioni
Allison A. Dilliott1,2 , Sali M.K. Farhan3 , Mahdi Ghani4 , Christine Sato4 , Eric Liang5 , Ming Zhang4 , Adam D. McIntyre1 , Henian Cao1 , Lemuel Racacho6,7 , John F. Robinson1 , Michael J. Strong1,8 , Mario Masellis9,10 , Dennis E. Bulman6,7 , Ekaterina Rogaeva4 , Anthony Lang10,11 , Carmela Tartaglia4,10 , Elizabeth Finger12,13 , Lorne Zinman9 , John Turnbull14 , Morris Freedman10,15 , Rick Swartz9 , Sandra E. Black9,16 , Robert A. Hegele1,2
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
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.
Chapters in this video
0:05
Title
1:19
DNA Isolation from Human Blood Samples
2:20
Processing NGS data
4:24
Resequencing and Variant Calling
7:58
Results: Workflow Identifies Genetic Variants That Contribute to Disease
9:03
Conclusion
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