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有针对性的下一代测序和生物信息学管道评价宪政疾病的遗传决定因素
JoVE Journal
Genetics
This content is Free Access.
JoVE Journal
Genetics
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Please note that all translations are automatically generated.
Click here for the English version.
有针对性的下一代测序和生物信息学管道评价宪政疾病的遗传决定因素
DOI:
10.3791/57266-v
•
09:34 min
•
April 04, 2018
•
Allison A. Dilliott
2
,
Sali M.K. Farhan
,
Mahdi Ghani
,
Christine Sato
,
Eric Liang
,
Ming Zhang
,
Adam D. McIntyre
,
Henian Cao
,
Lemuel Racacho
7
,
John F. Robinson
,
Michael J. Strong
8
,
Mario Masellis
10
,
Dennis E. Bulman
7
,
Ekaterina Rogaeva
,
Anthony Lang
11
,
Carmela Tartaglia
10
,
Elizabeth Finger
13
,
Lorne Zinman
,
John Turnbull
,
Morris Freedman
15
,
Rick Swartz
,
Sandra E. Black
16
,
Robert A. Hegele
2
1
Robarts Research Institute, Schulich School of Medicine and Dentistry
,
Western University
,
2
Department of Biochemistry, Schulich School of Medicine and Dentistry
,
Western University
,
3
Analytic 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
,
4
Tanz Centre for Research in Neurodegenerative Diseases
,
University of Toronto
,
5
School of Medicine, Faculty of Health Sciences
,
Queen’s University
,
6
Faculty of Medicine, Department of Biochemistry, Microbiology and Immunology
,
University of Ottawa
,
7
CHEO Research Institute, Faculty of Medicine
,
University of Ottawa
,
8
Department of Clinical Neurological Sciences
,
Western University
,
9
Division of Neurology, Department of Medicine, Sunnybrook Health Sciences Centre
,
University of Toronto
,
10
Division of Neurology, Department of Medicine
,
University of Toronto
,
11
Morton and Gloria Shulman Movement Disorders Centre
,
Toronto Western Hospital
,
12
Department of Clinical Neurological Sciences, Schulich School of Medicine and Dentistry
,
Western University
,
13
Parkwood Institute
,
St. Joseph’s Health Care
,
14
Department of Medicine, Division of Neurology
,
McMaster University
,
15
Division of Neurology, Department of Medicine
,
Baycrest Health Sciences
,
16
Canadian Partnership for Stroke Recovery Sunnybrook Site, Sunnybrook Health Science Centre
,
University of Toronto
Chapters
00:05
Title
01:19
DNA Isolation from Human Blood Samples
02:20
Processing NGS data
04:24
Resequencing and Variant Calling
07:58
Results: Workflow Identifies Genetic Variants That Contribute to Disease
09:03
Conclusion
Summary
Automatic Translation
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Automatic Translation
有针对性的下一代测序是一种时间和成本效益高的方法, 在疾病研究和临床诊断中越来越受欢迎。此处描述的协议介绍了序列化所需的复杂工作流以及用于识别导致疾病的遗传变异的生物信息学过程。
Tags
Targeted Next-generation Sequencing
Bioinformatics Pipeline
Genetic Determinants
Constitutional Disease
Neurodegenerative Diseases
Blood Sample Processing
DNA Extraction
Sequencing Library Preparation
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