Sequencing in Cohort Studies and Large Sample Collections

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


Sequencing in Cohort Studies and Large Sample Collections

Illustration with people, letters of A T C G and a stethoscopeOn 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:

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
YouTube video Video | Slides PDF file
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
YouTube video Video | Slides not available
Francis Collins, M.D., Ph.D.
National Institutes of Health
3 Large Sample Sequencing and NHGRI Priorities
YouTube video Video | Slides PDF file
Eric D. Green, M.D., Ph.D.
National Human Genome Research Institute
4 Fitting the Tools to the Job
YouTube video Video | SlidesPDF file
Richard K. Wilson, Ph.D.
Washington University in St. Louis
5 Perils and Promise
YouTube video Video | SlidesPDF file
Peter Donnelly, FRS, FMed, Sci
University of Oxford
6 Discussion of Short- and Long-Term Goals
YouTube video Video | SlidesPDF file
Eric Boerwinkle, Ph.D.
University of Texas Health Sciences Center
7 Implementation of Genetic Medicine Programs: Laboratories
YouTube video Video | Slides PDF file
Stephen Chanok, M.D.
National Cancer Institute


Friday, June 29, 2012

  Topic Speaker
8 Recap of June 5-6 Data Aggregation Workshop
YouTube video Video | Slides PDF file
Teri Manolio, M.D., Ph.D.
National Human Genome Research Institute
9 Revisit Meeting Charge
YouTube video Video | Slides PDF file
Eric Boerwinkle, Ph.D.
University of Texas Health Sciences Center
10 Using Genomic Variants to Guide Treatment
YouTube video Video | Slides PDF file
Michael F. Murray, M.D.
Brigham and Women's Hospital
11 Finding Rare Variants of Large Effect Related to Complex Diseases
YouTube video Video | Slides PDF file
Eric Boerwinkle, Ph.D.
University of Texas Health Sciences Center
12 Finding Modifiers of Known Disease-related Variants
YouTube video Video | Slides PDF file
Michael R. Knowles, M.D.
University of North Carolina at Chapel Hill
13 Finding Drug Targets
YouTube video Video | Slides PDF file
Judy H. Cho, M.D.
Yale University
14 Discussion and Prioritization (Morning)
YouTube video Video | Slides PDF file
Thomas Lehner, Ph.D., M.P.H
National Institute of Mental Health

Stephen Chanok, M.D.

National Cancer Institute
15 Implementing Physician Education Programs
YouTube video Video | Slides PDF file
Daniel MacArthur, Ph.D.
Massachusetts General Hospital
16 Cloud Computing for Large-Scale Sequencing
YouTube video Video | Slides PDF file
Nancy J. Cox, Ph.D.
University of Chicago
17 Consent, Data Access, Ability to Recontact
YouTube video Video | Slides PDF file
Gail Jarvik, M.D., Ph.D.
University of Washington
18 Breadth vs. Depth of Phenotyping
YouTube video Video | Slides PDF file
Julie Buring, Sc.D.
Harvard School of Public Health
19 Outcome Data, Links to Electronic Medical Records
YouTube video Video | Slides PDF file
Dan Roden, M.D.
Vanderbilt University
20 Ancestral Diversity
YouTube video Video | Slides PDF file
Lynn B. Jorde, Ph.D.
University of Utah
21 Participant Selection and Study Design
YouTube video Video | Slides PDF file
Patricia Hartge, Sc.D.
National Cancer Institute
22 Discussion and Prioritization (Afternoon)
YouTube video Video | Slides PDF file
Eric Boerwinkle, Ph.D.
University of Texas Health Sciences Center
23 Key Lessons and Reactions (Part 1)
YouTube video Video | Slides PDF file
Maynard Olson, Ph.D.
University of Washington
24 Key Lessons and Reactions (Part 2)
YouTube video Video | Slides PDF file
Rory Collins, FMed, Sci, FRCP
University of Oxford
25 Summary and Next Steps
YouTube video Video | Slides not available
Teri Manolio, M.D., Ph.D.
National Human Genome Research Institute

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Posted: August 29, 2012