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Related Experiment Videos

Family-based association tests for quantitative traits using pooled DNA.

Joel S Bader1, Pak Sham

  • 1CuraGen Corporation, 555 Long Wharf Drive, New Haven, Connecticut, CT 06511 USA. jsbader@curagen.com

European Journal of Human Genetics : EJHG
|December 4, 2002
PubMed
Summary
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Pooled DNA testing offers a cost-effective approach for whole-genome quantitative trait loci (QTL) mapping. Optimizing these tests for measurement error enhances their power and feasibility for genetic studies.

Area of Science:

  • Genetics and Genomics
  • Statistical Genetics

Background:

  • Whole-genome quantitative trait loci (QTL) mapping is crucial for genetic studies.
  • High costs associated with individual genotyping limit study scale.
  • Pooled DNA testing presents a potential cost-reduction strategy.

Purpose of the Study:

  • To investigate the impact of measurement error on the power of pooled DNA tests for whole-genome QTL mapping.
  • To develop pooled testing methods optimized for measurement error and population stratification.

Main Methods:

  • Description of pooled DNA tests specifically optimized for measurement error.
  • Inclusion of family-based tests designed to be robust to population stratification.
  • Analysis of how measurement error influences statistical power in pooled designs.

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Main Results:

  • Pooled DNA whole-genome screens demonstrate feasibility with current instrumentation.
  • Optimized pooled tests show improved power in the presence of measurement error.
  • Family-based pooled tests effectively control for population stratification.

Conclusions:

  • Pooled DNA testing is a viable and cost-effective alternative to individual genotyping for whole-genome QTL mapping.
  • Accounting for and optimizing for measurement error is critical for the success of pooled DNA studies.
  • These optimized pooled methods can facilitate larger-scale genetic investigations.