Detecting rare variant effects using extreme phenotype sampling in sequencing association studies.

@article{Barnett2013DetectingRV,
  title={Detecting rare variant effects using extreme phenotype sampling in sequencing association studies.},
  author={Ian Barnett and Seunggeun Lee and Xihong Lin},
  journal={Genetic epidemiology},
  year={2013},
  volume={37 2},
  pages={142-51}
}
In the increasing number of sequencing studies aimed at identifying rare variants associated with complex traits, the power of the test can be improved by guided sampling procedures. We confirm both analytically and numerically that sampling individuals with extreme phenotypes can enrich the presence of causal rare variants and can therefore lead to an increase in power compared to random sampling. Although application of traditional rare variant association tests to these extreme phenotype… CONTINUE READING