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対象に次世代シーケンサーとバイオインフォマティクス パイプライン体質性疾患の遺伝的決定因子を評価するには
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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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対象となる次世代シーケンサーは、病の研究と臨床検査の両方でますます人気になって時間とコスト効率の高いアプローチです。ここで説明されているプロトコルは、シーケンスに必要な複雑なワークフローと病に貢献する遺伝的変異を識別するために使用するバイオインフォマティクス プロセスを説明します。
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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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