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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

Last updated: June 28, 2012