다음-세대 시퀀싱과 생물 정보학 파이프라인 헌법 질병의 유전 결정 요인 평가 대상

36.4K 조회수

41회 인용됨

09:34 분

2018년 4월 4일

10.3791/57266-v

2018년 4월 4일

36.4K 조회수

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

타겟된 다음-세대 시퀀싱 질병 연구 및 임상 진단에서 점점 인기 끌고있다는 시간 및 비용 효율적인 접근 이다. 여기에 설명 된 프로토콜 시퀀싱에 필요한 복잡 한 워크플로 및 질병을 유전 이체를 식별 하는 데 사용 하는 생물 정보학 과정을 제공 합니다.

더 많은 동영상 탐색

ONDRISeq 패널

참조 게놈 매핑

임상적 유의성

Chapters in this video

0:05

Title

1:19

DNA Isolation from Human Blood Samples

2:20

Processing NGS data

4:24

Resequencing and Variant Calling

7:58

Results: Workflow Identifies Genetic Variants That Contribute to Disease

9:03

Conclusion