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Related Experiment Videos

Genome-wide association studies: theoretical and practical concerns.

William Y S Wang1, Bryan J Barratt, David G Clayton

  • 1Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 2XY, UK.

Nature Reviews. Genetics
|February 18, 2005
PubMed
Summary

Understanding genetic variations in common diseases requires genome sequencing, which is not yet feasible. Genome-wide association studies using single nucleotide polymorphisms (SNPs) offer a cost-effective alternative for identifying disease-susceptibility loci.

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Area of Science:

  • Genetics
  • Genomics
  • Disease Research

Background:

  • Complete genome sequencing is essential for understanding allelic variation in common diseases.
  • Current technology limits complete genome sequencing for large populations.
  • Partial genome surveys using genotyping are becoming feasible.

Purpose of the Study:

  • To outline key factors for optimizing cost-efficiency in identifying disease-susceptibility loci.
  • To guide future genome-wide association studies (GWAS).

Main Methods:

  • Reviewing factors influencing the cost-efficiency of genetic association studies.
  • Considering models of allelic architecture, sample size, and data quality.

Main Results:

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  • Cost-efficiency in identifying disease loci depends on multiple factors.
  • Optimizing sample size and SNP map density is crucial.

Conclusions:

  • Genome-wide association studies (GWAS) using single nucleotide polymorphisms (SNPs) are a practical approach.
  • Careful consideration of study design factors is necessary for successful identification of disease-susceptibility loci.