A data-driven method for identifying rare variants with heterogeneous trait effects.

@article{Zhang2011ADM,
  title={A data-driven method for identifying rare variants with heterogeneous trait effects.},
  author={Qunyuan Zhang and Marguerite R. Irvin and Donna K Arnett and Michael A. Province and Ingrid B. Borecki},
  journal={Genetic epidemiology},
  year={2011},
  volume={35 7},
  pages={679-85}
}
Collapsing multiple variants into one variable and testing their collective effect is a useful strategy for rare variant association analysis. Direct collapsing, however, is not valid or may significantly lose power when a group of variants to be collapsed have heterogeneous effects on target traits (i.e. some positive and some negative). This could be especially true for quantitative traits (such as blood pressure and body mass index), regardless of whether subjects are sampled randomly from a… CONTINUE READING
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