Next-Generation Analytical Tools for Large-Scale Genetic Epidemiology Studies of Complex Diseases

September 15-16, 2010 in Bethesda, MD


The goal of the Workshop on Next-Generation Analytic Tools for Large-Scale Genetic Epidemiology Studies of Complex Diseases was to facilitate discussions on:

  1. Statistical strategies and methods to efficiently identify genetic and environmental factors that contribute to the risk of complex disease; and
  2. Developing, applying, and evaluating these strategies for the design, analysis, and interpretation of large-scale complex disease-association studies to guide the National Institutes of Health (NIH) in setting its future research agenda.

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The Workshop was organized as a series of short presentations that provided an overview of the state of the science, followed by breakout sessions in which a series of questions were discussed. Speakers and topics included the following:

  • Gene-Gene and Gene-Environment Interactions
    • Nilanjan Chatterjee, Ph.D., Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI)
    • Peter Kraft, Ph.D., Harvard School of Public Health
  • Complex Phenotypes
    • Nancy Cox, Ph.D., University of Chicago
    • Matthew Stephens, Ph.D., University of Chicago
  • Rare Variants and Next-Generation Sequencing
    • John Witte, Ph.D., University of California San Francisco
    • Kathryn Roeder, Ph.D., Carnegie Mellon University
  • Simulation Modeling
    • Christopher Amos, Ph.D., The University of Texas M.D. Anderson Cancer Center
    • Michael Province, Ph.D., Washington University School of Medicine
  • Computational Resources and Data Management
    • Jason Moore, Ph.D., Dartmouth Medical School
    • Marylyn Ritchie, Ph.D., Vanderbilt University
  • Keynote Address
    • Daniel Schaid, Ph.D., Mayo Clinic

After the breakout sessions, short reports were presented to the entire group by the discussion leaders:

  • Gene-Gene and Gene-Environment Interactions-Clarice Weinberg, Ph.D., National Institute of Environmental Health Sciences (NIEHS);
  • Complex Phenotypes-Duncan Thomas, Ph.D., Keck School of Medicine, University of Southern California;
  • Rare Variants and Next-Generation Sequencing-Sebastian Zöllner, Ph.D., University of Michigan School of Public Health;
  • Simulations-Suzanne Leal, Ph.D., Baylor College of Medicine; and
  • Computational Resources and Data Management-Kevin Jacobs, M.S., DCEG, NCI.

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To best represent a variety of viewpoints and perspectives, the Workshop brought together staff from NIH Institutes and experts in the fields of biostatistics, genetics, statistical genetics, genetic epidemiology, epidemiology, and computer science.

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Mechanic LE, Chen HS, Amos CI, Chatterjee N, Cox NJ, Divi RL, Fan R, Harris EL, Jacobs K, Kraft P, Leal SM, McAllister K, Moore JH, Paltoo DN, Province MA, Ramos EM, Ritchie MD, Roeder K, Schaid DJ, Stephens M, Thomas DC, Weinberg CR, Witte JS, Zhang S, Zöllner S, Feuer EJ, Gillanders EM. Next generation analytic tools for large scale genetic epidemiology studies of complex diseases. Genet Epidemiol. 2011 Dec 6. doi: 10.1002/gepi.20652. [Epub ahead of print]

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Organizers and Sponsors

The Workshop was sponsored by NCI's Division of Cancer Control and Population Sciences (DCCPS) and was organized by a trans-NIH Steering Committee. The Steering Committee members were:

  • Nilanjan Chatterjee, Ph.D., DCEG, NCI
  • Huann-Sheng Chen, Ph.D., DCCPS, NCI
  • Rao L. Divi, Ph.D., DCCPS, NCI
  • Ruzong Fan, Ph.D., DCCPS, NCI
  • Eric J. Feuer, Ph.D., DCCPS, NCI
  • Elizabeth Gillanders, Ph.D., DCCPS, NCI
  • Emily Harris, Ph.D., National Institute of Dental and Craniofacial Research
  • Kimberly McAllister, Ph.D., NIEHS
  • Leah Mechanic, Ph.D., M.P.H., DCCPS, NCI
  • Dina Paltoo, Ph.D., M.P.H., National Heart, Lung, and Blood Institute
  • Erin Ramos, Ph.D., M.P.H., National Human Genome Research Institute
  • Shunpu Zhang, Ph.D., DCCPS, NCI

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Related Funding Opportunities

A related NIH funding opportunity, Methods and Approaches for Detection of Gene-Environment Interactions (PAR-11-032), was announced in November 2010; applications were due in February 2011.

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