Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Allison A. Dilliott; Sali M.K. Farhan; Mahdi Ghani; Christine Sato; Eric Liang; Ming Zhang; Adam D. McIntyre; Henian Cao; Lemuel Racacho; John F. Robinson; Michael J. Strong; Mario Masellis; Dennis E. Bulman; Ekaterina Rogaeva; Anthony Lang; Carmela Tartaglia; Elizabeth Finger; Lorne Zinman; John Turnbull; Morris Freedman; Rick Swartz; Sandra E. Black; Robert A. Hegele

doi:10.3791/57266

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

JoVE Journal
Genetyka

This content is Free Access.

JoVE Journal Genetyka

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

33,435 Views

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09:34 min

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April 04, 2018

DOI:

10.3791/57266-v

DOI:

10.3791/57266-v

•

09:34 min

April 04, 2018

•

43 Views

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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Podsumowanie

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.