Last updated: June 28, 2012
Sequencing in Cohort Studies and Large Sample Collections
On June 28-29, 2012, the National Human Genome Research Institute (NHGRI), sponsored a trans-NIH workshop — Sequencing in Cohort Studies and Large Sample Collections — in Wilson Hall, Building 1, at the National Institutes of Health in Bethesda, Md. Teri Manolio, M.D., Ph.D., NHGRI, and Eric Boerwinkle, Ph.D., University of Texas Health Science Center, co-chaired the workshop.
The goals/objectives of the workshop were to:
- Provide guidance to NIH and the scientific community on the utility of sequencing large sample collections to improve the understanding and treatment of complex diseases.
- Identify the key scientific questions that can be addressed by sequencing and define criteria for selecting samples to answer those questions.
Thursday, June 28, 2012
| Topic | Speaker | |
|---|---|---|
| 1 | Welcome and Introductions Video | Slides |
Teri Manolio, M.D., Ph.D. National Human Genome Research Institute Eric Boerwinkle, Ph.D. University of Texas Health Sciences Center |
| 2 | Large Sample Sequencing and NIH Priorities Video |
Francis Collins, M.D., Ph.D. National Institutes of Health |
| 3 | Large Sample Sequencing and NHGRI Priorities Video | Slides |
Eric D. Green, M.D., Ph.D. National Human Genome Research Institute |
| 4 | Fitting the Tools to the Job Video | Slides |
Richard K. Wilson, Ph.D. Washington University in St. Louis |
| 5 | Perils and Promise Video | Slides |
Peter Donnelly, FRS, FMed, Sci University of Oxford |
| 6 | Discussion of Short- and Long-Term Goals Video | Slides |
Eric Boerwinkle, Ph.D. University of Texas Health Sciences Center |
| 7 | Implementation of Genetic Medicine Programs: Laboratories Video | Slides |
Stephen Chanok, M.D. National Cancer Institute |
Friday, June 29, 2012
| Topic | Speaker | |
|---|---|---|
| 8 | Recap of June 5-6 Data Aggregation Workshop Video | Slides |
Teri Manolio, M.D., Ph.D. National Human Genome Research Institute |
| 9 | Revisit Meeting Charge Video | Slides |
Eric Boerwinkle, Ph.D. University of Texas Health Sciences Center |
| 10 | Using Genomic Variants to Guide Treatment Video | Slides |
Michael F. Murray, M.D. Brigham and Women's Hospital |
| 11 | Finding Rare Variants of Large Effect Related to Complex Diseases Video | Slides |
Eric Boerwinkle, Ph.D. University of Texas Health Sciences Center |
| 12 | Finding Modifiers of Known Disease-related Variants Video | Slides |
Michael R. Knowles, M.D. University of North Carolina at Chapel Hill |
| 13 | Finding Drug Targets Video | Slides |
Judy H. Cho, M.D. Yale University |
| 14 | Discussion and Prioritization (Morning) Video | Slides |
Thomas Lehner, Ph.D., M.P.H National Institute of Mental Health Stephen Chanok, M.D. National Cancer Institute |
| 15 | Implementing Physician Education Programs Video | Slides |
Daniel MacArthur, Ph.D. Massachusetts General Hospital |
| 16 | Cloud Computing for Large-Scale Sequencing Video | Slides |
Nancy J. Cox, Ph.D. University of Chicago |
| 17 | Consent, Data Access, Ability to Recontact Video | Slides |
Gail Jarvik, M.D., Ph.D. University of Washington |
| 18 | Breadth vs. Depth of Phenotyping Video | Slides |
Julie Buring, Sc.D. Harvard School of Public Health |
| 19 | Outcome Data, Links to Electronic Medical Records Video | Slides |
Dan Roden, M.D. Vanderbilt University |
| 20 | Ancestral Diversity Video | Slides |
Lynn B. Jorde, Ph.D. University of Utah |
| 21 | Participant Selection and Study Design Video | Slides |
Patricia Hartge, Sc.D. National Cancer Institute |
| 22 | Discussion and Prioritization (Afternoon) Video | Slides |
Eric Boerwinkle, Ph.D. University of Texas Health Sciences Center |
| 23 | Key Lessons and Reactions (Part 1) Video | Slides |
Maynard Olson, Ph.D. University of Washington |
| 24 | Key Lessons and Reactions (Part 2) Video | Slides |
Rory Collins, FMed, Sci, FRCP University of Oxford |
| 25 | Summary and Next Steps Video |
Teri Manolio, M.D., Ph.D. National Human Genome Research Institute |