靶向二代测序与生物信息学分析流程用于评估先天性疾病的遗传决定因素
36.5K 次观看
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被引用 41 次
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09:34 分钟
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2018年4月4日
DOI :10.3791/57266-v
2018年4月4日
•36.5K 次观看
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
靶向二代测序是一种高效且经济的方法，正日益广泛应用于疾病研究和临床诊断。本文所述方案介绍了用于测序的复杂工作流程，以及用于识别致病遗传变异的生物信息学分析过程。
Chapters in this video
0:05
标题
1:19
人血液样本中DNA的提取
2:20
NGS数据处理
4:24
重测序与变异检测
7:58
结果：工作流程鉴定出与疾病相关的遗传变异
9:03
结论
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