Establishing a Central Resource of Data from Genome Sequencing Projects

illustrative sequencing data
On June 5-6, 2012, the National Human Genome Research Institute (NHGRI) participated in a National Institutes of Health workshop — Establishing a Central Resource of Data from Genome Sequencing Projects —  at the Hilton Washington D.C./Rockville Hotel & Executive Meeting Center, Rockville, Md. The workshop addressed the challenges to aggregating and analyzing data sets from genome sequencing studies, such as:

  • Data sets being generally hard to access.
  • Data residing in various databases.
  • Variant and exposure/phenotype data not being comparable across studies.

Participants in the workshop discussed options for dealing with these challenges, along with their costs and tradeoffs.

Available in the table below are videos and accompanying slides from the workshop.
Also available as a video playlist on GenomeTV

Tuesday, June 5, 2012

  Topic Speaker
1 The Challenges to Aggregating and Analyzing Datasets from Sequencing Studies
YouTube video Video | Slides not availalable
Francis Collins, M.D., Ph.D.
National Institutes of Health
2 Goals of the Workshop
YouTube video Video | Slides PDF file
Eric D. Green, M.D., Ph.D.
National Human Genome Research Institute
3 Scope of the Data Sets
YouTube video Video | Slides PDF file
Adam Felsenfeld, Ph.D.
National Human Genome Research Institute
4 Questions to Address in Disease Biology
YouTube video Video | Slides PDF file

David Altshuler, M.D., Ph.D.
Broad Institute

5 Questions to Address in Drug Target Validation
YouTube video Video | Slides PDF file
Jeff Trimmer, Ph.D.
Pfizer Inc.
6 Challenges in Analyzing Across Multiple Sequencing Data Sets
YouTube video Video | Slides PDF file
Eric Boerwinkle, Ph.D.
University of Texas Health Sciences Center
7 Approaches to Streamlining the Data Access Process (Technical/Analysis)
YouTube video Video | Slides PDF file
Ewan Birney, Ph.D.
European Bioinformatics Institute
8 Approaches to Streamlining the Data Access Process (Policy/ELSI)
YouTube video Video | Slides PDF file
Laura Rodriguez, Ph.D.
National Human Genome Research Institute

9 Central Analysis Server (Technical/Analysis)
YouTube video Video | Slides PDF file
Mark DePristo, Ph.D.
Broad Institute
10 Central Analysis Server (ELSI Issues)
YouTube video Video | Slides PDF file
Pearl O'Rourke, M.D.
Partners Healthcare Systems
11 Policy and ELSI Issues Related to Data Access
YouTube video Video | Slides PDF file
Wylie Burke, M.D., Ph.D.
University of Washington

Wednesday, June 6, 2012

  Topic Speaker
12 Sequencing Data Processing
YouTube video Video | Slides PDF file
Gonçalo Abecasis, D.Phil.
University of Michigan School of Public Health
13 Phenotype and Exposure Data Harmonization
YouTube video Video | Slides PDF file
Leslie Lange, Ph.D.
University of North Carolina School of Medicine
14 Databases and Computation
YouTube video Video | Slides PDF file
Stephen Sherry, Ph.D.
National Center for Biotechnology Information
15 Analysis Tools and Portals
YouTube video Video | Slides PDF file
Gabor Marth, D.Sc.
Boston College
16 What needs to be done to address these issues?
YouTube video Video | Slides not availalable
Michael Boehnke, Ph.D.
University of Michigan School of Public Health
Wylie Burke, M.D., Ph.D.
University of Washington

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Last Updated: June 19, 2012