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

• 成果类型: Article
• 署名作者: Xie, Jichun; Cai, T. Tony; Li, Hongzhe
• 署名单位: University of Pennsylvania; University of Pennsylvania
• 刊物名称: BIOMETRIKA
• ISSN/ISSBN: 0006-3444
• DOI: 10.1093/biomet/asr003
• 发表日期: 2011
• 页码: 273290
• 关键词: false discovery rate; RISK

摘要

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.