A comprehensive review of genetic association studies

@article{Hirschhorn2002ACR,
  title={A comprehensive review of genetic association studies},
  author={Joel N. Hirschhorn and Kirk E. Lohmueller and E. Byrne and Kurt Hirschhorn},
  journal={Genetics in Medicine},
  year={2002},
  volume={4},
  pages={45-61}
}
Most common diseases are complex genetic traits, with multiple genetic and environmental components contributing to susceptibility. It has been proposed that common genetic variants, including single nucleotide polymorphisms (SNPs), influence susceptibility to common disease. This proposal has begun to be tested in numerous studies of association between genetic variation at these common DNA polymorphisms and variation in disease susceptibility. We have performed an extensive review of such… 
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TLDR
The most immediate questions are perhaps how to interpret the findings of the increasing number of genome-wide association studies which are now being conducted and how this global research effort could be most efficiently marshalled.
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TLDR
This dissertation developed a cost-efficient pooled sequencing scheme as well as the analytic framework that ensures low false positive and false negative rates in variant discovery and employed forward simulation to assess the usefulness of founder populations in rare variant association studies.
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