The exhaustive genomic scan approach, with an application to rare-variant association analysis.

ABSTRACT: Region-based genome-wide scans are usually performed by use of a priori chosen analysis regions. Such an approach will likely miss the region comprising the strongest signal and, thus, may result in increased type II error rates and decreased power. Here, we propose a genomic exhaustive scan approach that analyzes all possible subsequences and does not rely on a prior definition of the analysis regions. As a prime instance, we present a computationally ultraefficient implementation using the rare-variant collapsing test for phenotypic association, the genomic exhaustive collapsing scan (GECS). Our implementation allows for the identification of regions comprising the strongest signals in large, genome-wide rare-variant association studies while controlling the family-wise error rate via pe

SUBMITTER: Kanoungi G 

PROVIDER: S-EPMC7608423 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature