Saturday, February 11, 2012 |
7:30 – 8:00 a.m. |
Registration and Continental Breakfast |
8:00 – 8:05 a.m. |
Introduction Robert Star, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) Jeffrey Kopp, NIDDK |
8:05 – 8:45 a.m. |
Population Genetics to Personalized Medicine: An Icelandic Saga Kari Stefansson, deCode, Iceland |
8:45 – 9:00 a.m. |
Discussion |
|
|
Session I: Resources |
9:00 – 9:30 a.m. |
U.S. Studies and Repositories: Opportunity and Challenge Linda Kao, The Johns Hopkins University |
9:30 – 9:45 a.m. |
Discussion |
9:45 – 10:15 a.m. |
European Studies and Repositories: Opportunity and Challenge Gerjan Navis, University Medical Center Groningen, The Netherlands |
10:15 – 10:30 a.m. |
Discussion |
10:30 – 11:00 a.m. |
Break |
11:00 – 11:30 a.m. |
NCBI Databases of Genetic Variants—What Is Available and How Is It Best Used? Wendy Rubinstein, NIH/NLM/NCBI |
11:30 – 11:45 a.m. |
Discussion |
|
|
Session II: Study Designs |
11:45 a.m. – 12:30 p.m. |
Overview of Whole Genome Study Designs to Find Genes Contributing to Complex Diseases Steve Rich, University of Virginia |
12:30 – 12:45 p.m. |
Discussion |
12:45 – 1:30 p.m. |
Lunch |
|
|
Session III: Sequence and Analysis |
1:30 – 1:45 p.m. |
Introduction to Exome Studies: Approaches, Analysis, and Problems Andrey Shaw, Washington University in St. Louis |
1:45 – 2:15 p.m. |
Rare Variant Analysis: Aggregation Methods Suzanne Leal, Baylor College of Medicine |
2:15 – 2:30 p.m. |
Discussion |
2:30 – 3:00 p.m. |
Lessons From Genetic Analysis Workshop 17: Aggregation, Machine Learning, and Data Mining Approaches Joan Bailey-Wilson, NHGRI |
3:00 – 3:15 p.m. |
Discussion |
3:15 – 3:45 p.m. |
Rare Variant Analysis: Design and Analysis Strategies Xihong Lin, Harvard University |
3:45 – 4:00 p.m. |
Discussion |
4:00 – 4:30 p.m. |
Filtering and Integration of Exome Data Sets Jamie Teer, National Institutes of Health Intramural Sequencing Center |
4:30 – 4:45 p.m. |
Discussion |
4:45 – 5:00 p.m. |
Break |
5:00 – 5:30 p.m. |
Data Annotation to Identify Actionable Variants Ben Solomon, NHGRI |
5:30 – 5:45 p.m. |
Discussion |
5:45 – 6:15 p.m. |
Group Discussion—Issues in Data Analysis: What are the Challenges? Andrey Shaw, Washington University in St. Louis Cheryl Winkler, National Cancer Institute |
|
|
Session IV: Ethical, Legal, and Social Issues |
6:15 – 6:45 p.m. |
Data Sharing: Access and Confidentiality Laura Rodriguez, NHGRI |
6:45 – 7:00 p.m. |
Discussion |
7:00 p.m. |
Adjourn for the day |
|
|
Sunday, February 12, 2012 |
7:30 – 8:00 a.m. |
Continental Breakfast |
8:00 – 8:30 a.m. |
Consent Issues: What Do Subjects Need to Know and How Do We Tell Them? Julie Sapp, NHGRI |
8:30 – 8:45 a.m. |
Discussion |
8:45 – 9:15 a.m. |
Communicating Research Information to Subjects: Research Results and Incidental, Actionable Findings Ben Berkman, NHGRI |
9:15 – 9:30 a.m. |
Discussion |
9:30 – 10:00 a.m. |
Ethnicity and Community: Impact of Genetic Findings and Disclosing Results Malia Fullerton, University of Washington |
10:00 – 10:15 a.m. |
Discussion |
10:15 – 10:30 a.m. |
Break |
10:30 a.m. – 12:00 p.m. |
Breakout Groups
- Cohorts: What data/samples should we collect from what populations?
Linda Kao, The Johns Hopkins University Martin Pollak, Harvard University
- ELSI: What is the optimal way to conduct whole genome research?
Sara Hull, NHGRI
- Incorporating genetic data into nephrology practice: What might the future look like and what is the research agenda?
John Sedor, Case Western Reserve University
|
12:00 – 1:00 p.m. |
Plenary Discussion and Working Lunch Reports From Cohorts, ELSI, and Nephrology Practice Groups |
1:00 p.m. |
Adjournment (NEPTUNE meeting begins) |