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Journal / Genetics / संवैधानिक रोग के आनुवंशिक निर्धारकों का मूल्यांकन …
JoVE Journal
Genetics

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JoVE Journal Genetics
संवैधानिक रोग के आनुवंशिक निर्धारकों का मूल्यांकन करने के लिए लक्षित अगली पीढ़ी के अनुक्रमण और Bioinformatics पाइपलाइन
Characterizing Mutational Load and Clonal Composition of Human Blood
Journal (Genetics)
Characterizing Mutational Load and Clonal Composition of Human Blood
A Robotic Platform for High-throughput Protoplast Isolation and Transformation
Journal (Genetics)
A Robotic Platform for High-throughput Protoplast Isolation and Transformation
 
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संवैधानिक रोग के आनुवंशिक निर्धारकों का मूल्यांकन करने के लिए लक्षित अगली पीढ़ी के अनुक्रमण और Bioinformatics पाइपलाइन

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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लक्षित अगली पीढ़ी अनुक्रमण एक समय और लागत कुशल दृष्टिकोण है कि दोनों रोग अनुसंधान और नैदानिक निदान में तेजी से लोकप्रिय होता जा रहा है । प्रोटोकॉल यहां वर्णित जटिल अनुक्रमण के लिए आवश्यक कार्यप्रवाह और आनुवंशिक वेरिएंट है कि रोग में योगदान की पहचान करने के लिए इस्तेमाल किया bioinformatics प्रक्रिया प्रस्तुत करता है ।

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आनुवंशिकी 134 अंक अगली पीढ़ी अनुक्रमण लक्षित अनुक्रमण अनुक्रमण संस्करण कॉलिंग संस्करण एनोटेशन संवैधानिक रोग
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