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Journal / Genetics / Neste generasjons sekvensering og bioinformatikk…
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Genetics

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JoVE Journal Genetics
Neste generasjons sekvensering og bioinformatikk rørledning for å evaluere genetisk determinanter av konstitusjonelle sykdom
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Neste generasjons sekvensering og bioinformatikk rørledning for å evaluere genetisk determinanter av konstitusjonelle sykdom

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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Målrettet neste generasjons sekvensering er en tid - og kostnadseffektiv tilnærming som blir stadig mer populær i både sykdom forskning og klinisk diagnostikk. Protokollen beskrevet her presenterer komplekse arbeidsflyten kreves for sekvensering og bioinformatikk prosessen brukes til å identifisere genetiske varianter som bidrar til sykdom.

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Genetikk problemet 134 neste generasjons sekvensering målrettet sekvensering resequencing variant ringer variant merknaden konstitusjonelle sykdom
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