TidyGWAS: a scalable approach for standardized cleaning of genome-wide association study summary statistics

TidyGWAS:一种可扩展的标准化全基因组关联研究汇总统计数据清洗方法

阅读:3

Abstract

MOTIVATION: Genome-wide association studies (GWAS) have transformed human genetics by identifying tens of thousands of trait-associated variants, enabling applications from drug discovery to polygenic risk prediction. These advancements depend critically on open sharing of GWAS summary statistics. However, a lack of standardized formats complicates downstream analyses, requiring extensive dataset-specific "munging" before analysis can proceed. RESULTS: Here we present tidyGWAS, an R package that streamlines this process by cleanly separating data validation and harmonization from quality control. tidyGWAS uses curated data to repair and harmonize variant identifiers across genome builds, imputes missing columns when possible, and validates summary statistics with minimal filters. Outputs are saved as partitioned parquet files, optimized for high-throughput analysis via the arrow package. Benchmarked against existing tools tidyGWAS is up to 6.5× faster and substantially more memory efficient. Additionally, we implement a fixed-effects meta-analysis directly on tidyGWAS output, achieving up to 10× speedup over existing software. tidyGWAS simplifies and accelerates statistical genetic workflows, improving reproducibility and scalability for large-scale genetic analyses. AVAILABILITY AND IMPLEMENTATION: The package, reference data, and Docker containers are freely available for broad adoption.

特别声明

1、本页面内容包含部分的内容是基于公开信息的合理引用;引用内容仅为补充信息,不代表本站立场。

2、若认为本页面引用内容涉及侵权,请及时与本站联系,我们将第一时间处理。

3、其他媒体/个人如需使用本页面原创内容,需注明“来源:[生知库]”并获得授权;使用引用内容的,需自行联系原作者获得许可。

4、投稿及合作请联系:info@biocloudy.com。