Sample size and power analysis for sparse signal recovery in genome-wide association studies

Jichun Xie, T. Tony Cai and Hongzhe Li

Biometrika, 2011, vol. 98, issue 2, 273-290

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 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 procedure. Sparse genetic variant recovery is also considered and a boundary condition is established in terms of sparsity and signal strength for almost exact recovery of both disease-associated variants and nondisease-associated variants. A data-adaptive procedure is proposed to achieve this bound. The analytical results are illustrated with a genome-wide association study of neuroblastoma. Copyright 2011, Oxford University Press.

Date: 2011
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