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.