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Updated: Oct 5, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
Published on: June 23, 2012
sPLINK: a hybrid federated tool as a robust alternative to meta-analysis in genome-wide association studies
Reza Nasirigerdeh1,2, Reihaneh Torkzadehmahani3, Julian Matschinske4
1AI in Medicine and Healthcare, Technical University of Munich, Munich, Germany. reza.nasirigerdeh@tum.de.
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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