Estimating the number of true discoveries in genome-wide association studies Academic Article uri icon


  • Recent genome-wide association studies have reported the discoveries of genetic variants of small to moderate effects. However, most studies of complex diseases face a great challenge because the number of significant variants is less than what is required to explain the disease heritability. A new approach is needed to recognize all potential discoveries in the data. In this paper, we present a practical model-free procedure to estimate the number of true discoveries as a function of the number of top-ranking SNPs together with the confidence bounds. This approach allows a practical methodology of general utility and produces relevant statistical quantities with simple interpretation.


  • Lee, Woojoo
  • Gusnanto, A
  • Salim, A
  • Magnusson, P
  • Sim, Xueling
  • Tai, ES
  • Pawitan, Y

publication date

  • May 20, 2012

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