sPLINK: a hybrid federated tool as a robust alternative to meta-analysis in genome-wide association studies

GENOME BIOLOGY(2022)

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摘要
Meta-analysis has been established as an effective approach to combining summary statistics of several genome-wide association studies (GWAS). However, the accuracy of meta-analysis can be attenuated in the presence of cross-study heterogeneity. We present sPLINK , a hybrid federated and user-friendly tool, which performs privacy-aware GWAS on distributed datasets while preserving the accuracy of the results. sPLINK is robust against heterogeneous distributions of data across cohorts while meta-analysis considerably loses accuracy in such scenarios. sPLINK achieves practical runtime and acceptable network usage for chi-square and linear/logistic regression tests. sPLINK is available at https://exbio.wzw.tum.de/splink .
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关键词
sPLINK, PLINK, Federated learning, Genome-wide association studies, GWAS, Meta-analysis, Privacy
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