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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

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

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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33,337 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

•

43 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

Transcript

Summary

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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