Ciblé le séquençage Next-generation et bioinformatique Pipeline afin d’évaluer les déterminants génétiques de la maladie constitutionnelle

36.5K vues

Cité par 41

09:34 min

4 avril 2018

10.3791/57266-v

4 avril 2018

36.5K vues

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

Séquençage ciblé de nouvelle génération est une approche temps et coût-efficace qui devient de plus en plus populaire en recherche sur les maladies et diagnostic clinique. Le protocole décrit ici présente le flux de travail complexe requis pour le séquençage et le processus de bio-informatique permet d’identifier des variants génétiques qui contribuent à la maladie.