Simultaneous Detection of Signal Regions Using Quadratic Scan Statistics With Applications to Whole Genome Association Studies.

ABSTRACT: We consider in this paper detection of signal regions associated with disease outcomes in whole genome association studies. Gene- or region-based methods have become increasingly popular in whole genome association analysis as a complementary approach to traditional individual variant analysis. However, these methods test for the association between an outcome and the genetic variants in a pre-specified region, e.g., a gene. In view of massive intergenic regions in whole genome sequencing (WGS) studies, we propose a computationally efficient quadratic scan (Q-SCAN) statistic based method to detect the existence and the locations of signal regions by scanning the genome continuously. The proposed method accounts for the correlation (linkage disequilibrium) among genetic variants, and allows

SUBMITTER: Li Z 

PROVIDER: S-EPMC9285665 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature