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PrintSequencing 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.
Videos (and accompanying slides) from the workshop are available below.
Also available as a video playlist on GenomeTV
Thursday, June 28, 2012
| Topic | Speaker | |
|---|---|---|
| 1 | Welcome and Introductions
|
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
|
Francis Collins, M.D., Ph.D. National Institutes of Health |
| 3 | Large Sample Sequencing and NHGRI Priorities
|
Eric D. Green, M.D., Ph.D. National Human Genome Research Institute |
| 4 | Fitting the Tools to the Job
|
Richard K. Wilson, Ph.D. Washington University in St. Louis |
| 5 | Perils and Promise
|
Peter Donnelly, FRS, FMed, Sci University of Oxford |
| 6 | Discussion of Short- and Long-Term Goals
|
Eric Boerwinkle, Ph.D. University of Texas Health Sciences Center |
| 7 | Implementation of Genetic Medicine Programs: Laboratories
|
Stephen Chanok, M.D. National Cancer Institute |
Friday, June 29, 2012
| Topic | Speaker | |
|---|---|---|
| 8 | Recap of June 5-6 Data Aggregation Workshop
|
Teri Manolio, M.D., Ph.D. National Human Genome Research Institute |
| 9 | Revisit Meeting Charge
|
Eric Boerwinkle, Ph.D. University of Texas Health Sciences Center |
| 10 | Using Genomic Variants to Guide Treatment
|
Michael F. Murray, M.D. Brigham and Women's Hospital |
| 11 | Finding Rare Variants of Large Effect Related to Complex Diseases
|
Eric Boerwinkle, Ph.D. University of Texas Health Sciences Center |
| 12 | Finding Modifiers of Known Disease-related Variants
|
Michael R. Knowles, M.D. University of North Carolina at Chapel Hill |
| 13 | Finding Drug Targets
|
Judy H. Cho, M.D. Yale University |
| 14 | Discussion and Prioritization (Morning)
|
Thomas Lehner, Ph.D., M.P.H National Institute of Mental Health Stephen Chanok, M.D. National Cancer Institute |
| 15 | Implementing Physician Education Programs
|
Daniel MacArthur, Ph.D. Massachusetts General Hospital |
| 16 | Cloud Computing for Large-Scale Sequencing
|
Nancy J. Cox, Ph.D. University of Chicago |
| 17 | Consent, Data Access, Ability to Recontact
|
Gail Jarvik, M.D., Ph.D. University of Washington |
| 18 | Breadth vs. Depth of Phenotyping
|
Julie Buring, Sc.D. Harvard School of Public Health |
| 19 | Outcome Data, Links to Electronic Medical Records
|
Dan Roden, M.D. Vanderbilt University |
| 20 | Ancestral Diversity
|
Lynn B. Jorde, Ph.D. University of Utah |
| 21 | Participant Selection and Study Design
|
Patricia Hartge, Sc.D. National Cancer Institute |
| 22 | Discussion and Prioritization (Afternoon)
|
Eric Boerwinkle, Ph.D. University of Texas Health Sciences Center |
| 23 | Key Lessons and Reactions (Part 1)
|
Maynard Olson, Ph.D. University of Washington |
| 24 | Key Lessons and Reactions (Part 2)
|
Rory Collins, FMed, Sci, FRCP University of Oxford |
| 25 | Summary and Next Steps
|
Teri Manolio, M.D., Ph.D. National Human Genome Research Institute |
To view the PDF document(s) on this page, you will need Adobe Reader.
Posted: August 29, 2012
