2011 News Feature: Next-Gen 101: Video Tutorial on Whole-Exome Sequencing

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


Next-Gen 101: Video Tutorial on Conducting Whole-Exome Sequencing Research

 
Panel
The Division of Intramural Research at the National Human Genome Research Institute presented a full-day course to help orient researchers to the new technique of exome sequencing. The course introduced participants to the technical basis of the sequencing, approaches to filtering exome sequence results for both inherited and somatic genetic disorders, the use of software tools to analyze data, approaches to clinical annotation of exomes, and informed consent and IRB considerations.

 

The speakers used actual datasets and provided practical real-world examples of projects to illustrate the various approaches one can use to exploit this powerful technology, its strengths and limitations, and the clinical and human subjects implications of the work. The lecture videos are available in the list below.

 

Next-Gen 101: A How-To for Whole-Exome Sequencing Research

Wednesday, September 28, 2011
Natcher Auditorium (Building 45)
 
YouTube video Full Video Playlist on GenomeTV
 

Agenda

1 Welcome and Introduction to the Course
YouTube video Video | Slides PDF file
Eric Green, M.D., Ph.D.
Director, National Human Genome Research Institute
2 Whole-Exome Sequencing: Technical Details
YouTube video Video | SlidesPDF file
James Mullikin, Ph.D.
Director, NIH Intramural Sequencing Center
3 Variant Annotation and Viewing Exome Sequencing Data
YouTube video Video | Slides PDF file
Jamie K. Teer, Ph.D.
Genetic Disease Research Branch, NHGRI
4 Filtering Strategies for Identifying Germline Variants that Cause Disease
YouTube video Video | Slides PDF file
Leslie Biesecker, M.D.
Chief, Genetic Disease Research Branch, NHGRI
5 Whole-Exome Sequencing to Identify Somatic Variants in Cancer
YouTube video Video | Slides PDF file
Yardena Samuels, Ph.D.
Cancer Genetics Branch, NHGRI
6 Morning Speakers Q&A Panel
YouTube video Video
7 Integrating Exome Variants with Other Genomic Data and Functional Annotations
YouTube video Video | Slides PDF file
David Adams, M.D., Ph.D.
Medical Genetics Branch, NHGRI
8 Secondary or Incidental Findings from Exome Sequence Data
YouTube video Video | Slides PDF file
Jennifer Johnston, Ph.D.
Genetic Disease Research Branch, NHGRI
9 Ethics and IRB Issues Related to Whole-Exome Sequencing
YouTube video Video | Slides PDF file
Sara Hull, Ph.D.
NHGRI and Department of Bioethics, NIH Clinical Center
10 Informed Consent and Returning Results in Whole-Exome Sequencing Protocols
YouTube video Video | Slides PDF file
Julie Sapp, Sc.M., C.G.C.
Genetic Disease Research Branch, NHGRI
11 Afternoon Speakers Q&A Panel
YouTube video Video

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Last Reviewed: August 27, 2013