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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Sequenziamento di nuova generazione e bioinformatica Pipeline per valutare fattori determinanti genetici della malattia costituzionale mirati

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

JoVE Journal
Genetica

This content is Free Access.

JoVE Journal Genetica

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

Sequenziamento di nuova generazione e bioinformatica Pipeline per valutare fattori determinanti genetici della malattia costituzionale mirati

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33,690 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

•

33646 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

Summary

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.