Fast Signal Region Detection With Application to Whole Genome Association Studies

Wei Zhang, Fan Wang and Fang Yao

Journal of the American Statistical Association, 2025, vol. 120, issue 551, 1360-1372

Abstract: Research on the localization of the genetic basis associated with diseases or traits has been widely conducted in the last few decades. Scan methods have been developed for region-based analysis in whole-genome association studies, helping us better understand how genetics influences human diseases or traits, especially when the aggregated effects of multiple causal variants are present. In this paper, we propose a fast and effective algorithm coupling with high-dimensional test for simultaneously detecting multiple signal regions, which is distinct from existing methods using scan or knockoff statistics. The idea is to conduct binary splitting with re-search and arrangement based on a sequence of dynamic critical values to increase detection accuracy and reduce computation. Theoretical and empirical studies demonstrate that our approach enjoys favorable theoretical guarantees with fewer restrictions and exhibits superior numerical performance with faster computation. Utilizing the UK Biobank data to identify the genetic regions related to breast cancer, we confirm previous findings and meanwhile, identify a number of new regions that suggest strong associations with risk of breast cancer and deserve further investigation. Supplementary materials for this article are available online, including a standardized description of the materials available for reproducing the work.

Date: 2025
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DOI: 10.1080/01621459.2025.2464271

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