Streamlining Large-Scale Genomic Data Management: Insights from the UK Biobank Whole-Genome Sequencing Data
Xihao Li, Andrew R. Wood, Yuxin Yuan, Manrui Zhang, Yushu Huang, Gareth Hawkes, Robin N. Beaumont, Michael N. Weedon, Xiaoyu Li, Xihong Lin, Zilin Li
The paper introduces vcf2agds, a toolkit converting WGS data to aGDS format, enabling efficient analysis of UK Biobank data and identifying 480 genome-wide significant associations for total cholesterol.
Cell Genomics · Sep 23, 2025Peer-reviewedGenetic & Genomic Medicine