Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
36.4K views
•
Cited by 41
•
09:34 min
•
April 4th, 2018
DOI :10.3791/57266-v
April 4th, 2018
•36.4K views
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
Targeted next-generation sequencing is a time- and cost-efficient approach that is becoming increasingly popular in both disease research and clinical diagnostics. The protocol described here presents the complex workflow required for sequencing and the bioinformatics process used to identify genetic variants that contribute to disease.
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
Related Videos
Copyright © 2026 MyJoVE Corporation. All rights reserved.