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Related Experiment Videos

Recent developments in genomewide association scans: a workshop summary and review.

Duncan C Thomas1, Robert W Haile, David Duggan

  • 1Department of Preventive Medicine, University of Southern California, Los Angeles, CA 90089-9011, USA. dthomas@usc.edu

American Journal of Human Genetics
|August 5, 2005
PubMed
Summary

Ultra-high-volume genotyping is becoming available, enabling genomewide association studies (GWAS) for diseases. A multistage sampling design is efficient for these large-scale genetic studies.

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Area of Science:

  • Genetics
  • Genomics
  • Biostatistics

Background:

  • Ultra-high-volume genotyping platforms offer unprecedented data generation capacity.
  • Growing interest exists in applying these technologies to genomewide association studies (GWAS) for various diseases.
  • Limited consensus currently exists on optimal study design and analysis methods for large-scale GWAS.

Purpose of the Study:

  • To convene international investigators to discuss planned/ongoing studies.
  • To debate alternative technologies, study designs, and statistical methods for GWAS.
  • To establish consensus on launching and conducting large-scale GWAS.

Main Methods:

  • A 2-day international workshop involving >100 investigators.
  • Discussion and comparison of planned/ongoing GWAS projects.

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  • Review of relevant literature on GWAS design and analysis.

    • Main Results:

    • Broad consensus reached that the time is opportune for launching large-scale GWAS.
    • Identification of multistage sampling designs as a key efficiency gain.
    • Recommendation for initial high-density genotyping on a subset of subjects, followed by targeted genotyping.

    Conclusions:

    • Large-scale genomewide association studies are now feasible and timely.
    • Multistage sampling designs offer significant efficiency improvements for GWAS.
    • Further development and consensus on statistical methods are crucial for successful GWAS implementation.