A1211
Title: All-in-one rare-variant analysis tool for biobank-scale whole-genome sequencing data
Authors: Zilin Li - Northeast Normal University (China) [presenting]
Abstract: Large-scale whole-genome sequencing (WGS) studies have enabled the analysis of rare variant associations with complex human diseases and traits. Variant set analysis is a powerful approach to studying rare variant associations. However, existing methods have a limited ability to define the variant set in the genome, especially for the noncoding genome. A computationally efficient and robust genetic variant association-detection framework, STAARpipeline, is proposed to automatically annotate a WGS study and perform flexible rare variant association analysis, including functional category-based gene-centric analysis and fixed-window and dynamic-window-based non-gene-centric analysis by incorporating variant functional annotations. STAARpipeline also provides analytical follow-up of dissecting association signals independent of known variants via conditional analysis. The STAARpipeline is applied to analyze Alzheimer's disease (AD) in 459,216 samples from the UK Biobank. All analyses scale well in computation time and memory. Several potentially new significant associations with AD are discovered. In summary, STAARpipeline is a powerful and resource-efficient tool for association analysis of biobank-scale WGS studies.
