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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
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April 04, 2018
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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
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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。
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Dilliott, A. A., Farhan, S. M., Ghani, M., Sato, C., Liang, E., Zhang, M., McIntyre, A. D., Cao, H., Racacho, L., Robinson, J. F., Strong, M. J., Masellis, M., Bulman, D. E., Rogaeva, E., Lang, A., Tartaglia, C., Finger, E., Zinman, L., Turnbull, J., Freedman, M., Swartz, R., Black, S. E., Hegele, R. A. Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease. J. Vis. Exp. (134), e57266, doi:10.3791/57266 (2018).
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