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Journal / Genetics / Hedef yeni nesil sıralama ve Biyoinformatik boru…
JoVE Journal
Genetics

This content is Open Access.

JoVE Journal Genetics
Hedef yeni nesil sıralama ve Biyoinformatik boru hattı anayasal hastalığı genetik belirleyicileri değerlendirmek için
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Hedef yeni nesil sıralama ve Biyoinformatik boru hattı anayasal hastalığı genetik belirleyicileri değerlendirmek için

Article DOI: 10.3791/57266-v • 09:34 min • April 4th, 2018
April 4th, 2018 •
1,2, 3, 4, 4, 5, 4, 1, 1, 6,7, 1, 1,8, 9,10, 6,7, 4, 10,11, 4,10, 12,13, 9, 14, 10,15, 9, 9,16, 1,2
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

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Hedeflenen yeni nesil sıralama Hastalıkları Araştırma ve Klinik teşhis giderek daha popüler hale geliyor zaman ve maliyet-etkin bir yaklaşımdır. Burada açıklanan protokol sıralaması için gerekli karmaşık iş akışı ve hastalık katkıda genetik varyantların tanımlamak için kullanılan Biyoinformatik işlem sunar.

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Genetik sayı: 134 yeni nesil sıralama hedeflenen sıralama içinden varyant aradım varyant ek açıklama anayasal hastalığı
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