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

Reza Nasirigerdeh, Reihaneh Torkzadehmahani, Julian Matschinske, Tobias Frisch, Markus List, Julian Späth, Stefan Weiß, Uwe Völker, Esa Pitkänen, Dominik Heider, Nina K. Wenke, Georgios Kaissis, Daniel Rueckert, Tim Kacprowski, Jan Baumbach

2022Genome biology41 citationsDOIOpen Access PDF

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 .

Topics & Concepts

BiologyHuman geneticsComputational biologyGenome BiologyGenome-wide association studyGenomeMeta-analysisEvolutionary biologyGeneticsGenomicsSingle-nucleotide polymorphismGeneGenotypeInternal medicineMedicineGenetic Associations and EpidemiologyEpigenetics and DNA MethylationGenetic Syndromes and Imprinting
sPLINK: a hybrid federated tool as a robust alternative to meta-analysis in genome-wide association studies | Litcius