Sample Size and Power Analysis for Sparse Signal Recovery in Genome-Wide Association StudiesJichun Xie, Tony Cai, and Hongzhe Li
Sample Size and Power Analysis for Sparse Signal Recovery in Genome-Wide Association StudiesJichun Xie, Tony Cai, and Hongzhe Li
- Abstract: Genome-wide association studies have successfully identified hundreds of novel genetic variants associated with many complex human diseases. However, there is a lack of rigorous work on evaluating the statistical power for identifying these variants. In this paper, we consider the problem of sparse signal identification in genome-wide association studies and present two analytical frameworks for detailed analysis of the statistical power for detecting and identifying the disease-associated variants. We present an explicit sample size formula for achieving a given false non-discovery rate while controlling the false discovery rate based on an optimal false discovery rate procedure. The problem of sparse genetic variants recovery is also considered and a boundary condition is established in terms of sparsity and signal strength for almost exact recovery of disease-associated variants as well as nondisease-associated variants. A data-adaptive procedure is proposed to achieve this bound. These results provide important tools for sample size calculation and power analysis for large-scale multiple testing problems. The analytical results are illustrated with a genome-wide association study of neuroblastoma.
- Paper: pdf file.