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

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Abstract

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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Nasirigerdeh, R., Torkzadehmahani, R., Matschinske, J., Frisch, T., List, M., Späth, J., … Baumbach, J. (2022). sPLINK: a hybrid federated tool as a robust alternative to meta-analysis in genome-wide association studies. Genome Biology, 23(1). https://doi.org/10.1186/s13059-021-02562-1

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