Dynamic Scan Procedure for Detecting Rare-Variant Association Regions in Whole-Genome Sequencing Studies.

ABSTRACT: Whole-genome sequencing (WGS) studies are being widely conducted in order to identify rare variants associated with human diseases and disease-related traits. Classical single-marker association analyses for rare variants have limited power, and variant-set-based analyses are commonly used by researchers for analyzing rare variants. However, existing variant-set-based approaches need to pre-specify genetic regions for analysis; hence, they are not directly applicable to WGS data because of the large number of intergenic and intron regions that consist of a massive number of non-coding variants. The commonly used sliding-window method requires the pre-specification of fixed window sizes, which are often unknown as a priori, are difficult to specify in practice, and are subject to limitation

SUBMITTER: Li Z 

PROVIDER: S-EPMC6507043 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature