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

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)

Agenda

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

To view the PDF document(s) on this page, you will need Adobe Reader.

Top of page

Last Reviewed: April 30, 2012

Leave a Comment!

We encourage you to share your thoughts as they relate to the topics being discussed on genome.gov, other websites or discussion forums owned or administered by the National Human Genome Research Institute (NHGRI). We review all comments for posting. We do not discriminate against any views, but we reserve the right not to post comments, or to remove comments, that are inconsistent with our Comment Policy, at our complete discretion.

Name or alias (optional):

Comment (required):

Comments:

• Candy Cooley (October 19, 2011, 09:26)
  
  I am the National Genetic Awareness Programme Manager at the National Genetics Education and Development Centre, Birmingham, UK. This programme looks excellent but unfortunately the NHS blocks all YouTube videos, so not much use for us I'm afraid. Regards Candy
  
  

Top of page