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Gezielte Sequenzierung der nächsten Generation und Bioinformatik-Pipeline, um genetische Determinanten der konstitutionelle Krankheit zu bewerten
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유전학
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Gezielte Sequenzierung der nächsten Generation und Bioinformatik-Pipeline, um genetische Determinanten der konstitutionelle Krankheit zu bewerten

32,673 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

•

18 Views
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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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Gezielte Sequenzierung der nächsten Generation ist eine Zeit- und kosteneffiziente Ansatz, der in der Erforschung von Krankheiten und der klinischen Diagnostik immer beliebter wird. Das hier beschriebene Protokoll stellt die komplexen Workflow für die Sequenzierung erforderlich und der Bioinformatik-Prozess verwendet, um Genvarianten identifizieren, die zur Krankheit beitragen.

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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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