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.
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
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 | Slides not available |
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 | Slides not available |
Teri Manolio, M.D., Ph.D. National Human Genome Research Institute |
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Posted: August 29, 2012
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