Future Opportunities for Genome Sequencing and Beyond:
A Planning Workshop for the National Human Genome Research Institute

Meeting banner

July 28-29, 2014

Bethesda North Marriott & Conference Center
5701 Marinelli Road
North Bethesda, Md. 20852
(301) 822-9200

On July 28-29, 2014, the National Human Genome Research Institute (NHGRI) sponsored the workshop - Future Opportunities for Genome Sequencing and Beyond: A Planning Workshop for the National Human Genome Research Institute - at the Bethesda North Marriott Hotel & Conference Center.

The objectives of the workshop were to:

  • Discuss the scientific questions and opportunities that can be substantially addressed by large-scale genomics studies, starting with genome sequencing but also considering other genomic technologies.
  • Consider options for future NHGRI programs that would address these questions and opportunities.
     
View workshop videos and slides from: July 28 July 29

Tweets from the Workshop: #GSPFuturePDF file
Workshop AgendaPDF file

Monday, July 28, 2014

  Topic Presenter/Moderator
1 Welcome and Charge for the Workshop
YouTube video Video | Slides PDF file
Eric Green, M.D., Ph.D
NHGRI
2 Background and Orientation
YouTube video Video | Slides PDF file
Adam Felsenfeld, Ph.D.
NHGRI
3 Discovering Variants Conferring Risk for Common Diseases
YouTube video Video | Slides PDF file
 
Michael Boehnke, Ph.D.
University of Michigan
4 Discovering the Genomic Bases of Mendelian Diseases
YouTube video Video | Slides PDF file
Roderick McInnes, M.D., Ph.D.
Lady Davis Institute for Medical Research
5 Genomic Sequencing for Clinical Care
YouTube video Video | Slides PDF file
Dan Roden, M.D.
Vanderbilt University
6 Functional Genomics at Scale
YouTube video Video | Slides PDF file
Joseph Ecker, Ph.D.
Howard Hughes Medical Institute
Salk Institute for Biological Studies
7 Discussion and Refinement of Opportunities
YouTube video Video | Slides PDF file
Ewan Birney, Ph.D.
European Bioinformatics Institute
8 Peptide Display and T-Cell Recognition Project
YouTube video Video | Slides PDF file
David Haussler, Ph.D.
University of California, Santa Cruz
9 Using the Negative Correlation Between Polygenic and Rare Variant Burdens for
Common Disease To Improve Study Efficiency and Power
Video Not Available | Slides PDF file
Nancy Cox, Ph.D.
University of Chicago
10 The Human Cell Atlas
Video Not Available | Slides PDF file
Aviv Regev, Ph.D.
Broad Institute
11 Measuring the Functional Consequences of Very Large Numbers of Human Genetic Variants
YouTube video Video | Slides PDF file
Jay Shendure, M.D., Ph.D.
University of Washington
12 Not Your Father's PDF: New Forms of Knowledge Representation for Genomic Sequence
YouTube video Video | Slides PDF file
Daniel Masys, M.D., Ph.D.
University of Washington

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Tuesday, July 29, 2014

  Topic Presenter/Moderator
13 Group 1: Understanding the Genetic Architecture of Health and Disease at Scale
YouTube video Video | Slides PDF file
Eric Boerwinkle, Ph.D.
University of Texas Health Sciences Center

Michael Bamshad, Ph.D.
University of Washington

Adam Felsenfeld, Ph.D.
NHGRI
14 Group 2: Integrating Genomic Variant Discovery with Function
YouTube video Video | Slides PDF file
Richard Myers, Ph.D.
HudsonAlpha Institute for Biotechnology

Mike Pazin, Ph.D.
NHGRI
15 Group 3: Clinical Genome Sequencing at Scale
YouTube video Video | Slides PDF file
Heidi Rehm, Ph.D.
Partners Healthcare

Sharon Plon, M.D., Ph.D.
Baylor College of Medicine
16 Group 4: Clinical Comparative Genomics at Scale
YouTube video Video | Slides PDF file
Evan Eichler, Ph.D.
University of Washington

Andrew Clark, Ph.D.
Cornell University
17 Introduction: "Scenarios"
YouTube video Video
William M. Gelbart, Ph.D.
Harvard University
18 Element 1: Understanding the Genetic Architecture of Health and Disease at Scale
YouTube video Video | Slides PDF file
Adam Felsenfeld, Ph.D.
NHGRI
19 Element 2: Integrating Genomic Variant Discovery and Function
YouTube video Video
Carlos Bustamante, Ph.D.
Stanford University
20 Element 3: Clinical Genome Sequencing at Scale
YouTube video Video | Slides PDF file
James Evans, M.D., Ph.D.
University of North Carolina at Chapel Hill
21 Discussion: Combining Strategic and Tactical Considerations
YouTube video Video
Rex Chisholm, Ph.D.
Northwestern University

Adam Felsenfeld, Ph.D.
NHGRI
22 Wrap-up
YouTube video Video | Slides PDF file
Eric Green, M.D., Ph.D
NHGRI

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Last Updated: October 28, 2014