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PrintImplicating Sequence Variants in Human Disease
On September 12-13, 2012, the National Human Genome Research Institute (NHGRI), sponsored a workshop — Implicating Sequence Variants in Human Disease — at the Hyatt Regency Bethesda, in Bethesda, Md. Teri Manolio, M.D., Ph.D., NHGRI, and Daniel MacArthur, Ph.D., Massachusetts General Hospital, co-chaired the workshop. The goal of the workshop was to develop guidelines for investigators, reviewers and editors to consider in assessing the evidence implicating sequence variants or genes as causal in a specific disease.
Videos and some accompanying slides from the workshop are available below.
Also available as a video playlist on GenomeTV
Wednesday, September 12, 2012
| Topic | Speaker | |
|---|---|---|
| 1 | Welcome and Introductions
|
Daniel MacArthur, Ph.D. Massachusetts General Hospital |
| 2 | The Need for Criteria to Implicate DNA Variants: Real-World Examples
|
Mark Daly, Ph.D. Massachusetts General Hospital |
| 3 | Maintaining Accurate Information in Variant Databases
|
Heidi Rehm, Ph.D., F.A.C.M.G Partners Healthcare |
| 4 | Laboratory Perspectives on Variant Implication
Video not yet available | Slides not available |
David Dimmock, M.D. Medical College of Wisconsin |
| 5 | Discussion
|
All Participants |
Thursday, September 13, 2012
| Topic | Speaker | |
|---|---|---|
| 6 | Revisions (as needed) to Plans for Day's Discussions
|
Daniel MacArthur, Ph.D. Massachusetts General Hospital |
| START OF WORKGROUP DISCUSSIONS | ||
| 7 | Study Design: What sample selection and data processing procedures maximize power and minimize false positives in identifying causal variants?
|
Study Design Workgroup:
|
| 8 | Statistical Analysis: How can we robustly identify variants underlying disease?
|
Statistical Analysis Workgroup:
|
| 9 | Known Variants: Which candidate causal variants/genes in a patient or cohort have been previously implicated in similar phenotypes?
|
Known Variants Workgroup:
|
| 10 | Estimating Impact: How can we predict the variants most likely to have an effect on biological function?
|
Estimating Impact Workgroup:
|
| 11 | Experimental Data: How can we investigate whether candidate causal variants have a biological effect on disease risk?
|
Experimental Data Workgroup:
|
| 12 | Clinical Implications: How could these guidelines be used in context of diagnostic-decision-making?
|
Clinical Implications Workgroup:
|
| 13 | Integrated Approach: How can we sum across different classes of evidence to assess overall confidence in variant causality?
|
Integrated Approach Workgroup:
|
| END OF WORKGROUP DISCUSSIONS | ||
| 14 | Outline of White Paper /
Summary of Key Messages and Next Steps
|
Daniel MacArthur, Ph.D. Massachusetts General Hospital Teri Manolio, M.D., Ph.D. National Human Genome Research Institute |
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Last Updated: September 19, 2012
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