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

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-friendl...

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Detalles Bibliográficos
Autores principales: Nasirigerdeh, Reza, Torkzadehmahani, Reihaneh, Matschinske, Julian, Frisch, Tobias, List, Markus, Späth, Julian, Weiss, Stefan, Völker, Uwe, Pitkänen, Esa, Heider, Dominik, Wenke, Nina Kerstin, Kaissis, Georgios, Rueckert, Daniel, Kacprowski, Tim, Baumbach, Jan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8785575/
https://www.ncbi.nlm.nih.gov/pubmed/35073941
http://dx.doi.org/10.1186/s13059-021-02562-1
Descripción
Sumario: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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at (10.1186/s13059-021-02562-1).