Last updated: June 19, 2012
Establishing a Central Resource of Data from Genome Sequencing Projects
Establishing a Central Resource of Data from Genome Sequencing Projects
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
| Francis Collins, M.D., Ph.D. National Institutes of Health |
| 2 | Goals of the Workshop
| Eric D. Green, M.D., Ph.D. National Human Genome Research Institute |
| 3 | Scope of the Data Sets
| Adam Felsenfeld, Ph.D. National Human Genome Research Institute |
| 4 | Questions to Address in Disease Biology
| David Altshuler, M.D., Ph.D. |
| 5 | Questions to Address in Drug Target Validation
| Jeff Trimmer, Ph.D. Pfizer Inc. |
| 6 | Challenges in Analyzing Across Multiple Sequencing Data Sets
| Eric Boerwinkle, Ph.D. University of Texas Health Sciences Center |
| 7 | Approaches to Streamlining the Data Access Process (Technical/Analysis)
| Ewan Birney, Ph.D. European Bioinformatics Institute |
| 8 | Approaches to Streamlining the Data Access Process (Policy/ELSI)
| Laura Lyman Rodriguez, Ph.D. National Human Genome Research Institute |
| 9 | Central Analysis Server (Technical/Analysis)
| Mark DePristo, Ph.D. Broad Institute |
| 10 | Central Analysis Server (ELSI Issues)
| Pearl O'Rourke, M.D. Partners Healthcare Systems |
| 11 | Policy and ELSI Issues Related to Data Access
| Wylie Burke, M.D., Ph.D. University of Washington |
Wednesday, June 6, 2012
| Topic | Speaker | |
|---|---|---|
| 12 | Sequencing Data Processing
| Gonçalo Abecasis, D.Phil. University of Michigan School of Public Health |
| 13 | Phenotype and Exposure Data Harmonization
| Leslie Lange, Ph.D. University of North Carolina School of Medicine |
| 14 | Databases and Computation
| Stephen Sherry, Ph.D. National Center for Biotechnology Information |
| 15 | Analysis Tools and Portals
| Gabor Marth, D.Sc. Boston College |
| 16 | What needs to be done to address these issues?
| Michael Boehnke, Ph.D. University of Michigan School of Public Health Wylie Burke, M.D., Ph.D. University of Washington |
Last Updated: June 19, 2012