A1973
Title: All-in-one toolkit for biobank-scale whole-genome sequencing data management and analysis
Authors: Zilin Li - Northeast Normal University (China) [presenting]
Abstract: Biobank-scale Whole-Genome Sequencing (WGS) studies are increasingly pivotal in unraveling the genetic bases of diverse health outcomes. However, managing and analyzing the sheer volume and complexity of these datasets presents significant challenges. vcf2agds is proposed, an all-in-one toolkit that efficiently converts WGS Data from Variant Call Format (VCF) Format to the annotated Genomic Data Structure (aGDS) Format. vcf2agds significantly reduces Data size while supporting seamless Genomic and functional Data integration for comprehensive genetic analyses. STAARpipeline equipped with aGDS files enables scalable, comprehensive, and functionally informed WGS analysis, facilitating the detection of common and rare coding and noncoding phenotype-genotype associations. Application of STAARpipeline to analyze Alzheimer disease (AD) in 459,216 samples from the UK Biobank demonstrated analyses that scale well in computation time and memory, yielding several potentially new significant associations with AD. As WGS datasets continue to expand in size and complexity, these tools will be increasingly useful for unlocking the full potential of Genomic research.
