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

sPLINK: a hybrid federated tool as a robust alternative to meta-analysis in genome-wide association studies.
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DOI:
10.1186/s13059-021-02562-1
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发表时间:
2022-01-24
期刊:
影响因子:
12.3
通讯作者:
Baumbach J
Baumbach J
中科院分区:
生物学1区
文献类型:
--
作者:
Nasirigerdeh R;Torkzadehmahani R;Matschinske J;Frisch T;List M;Späth J;Weiss S;Völker U;Pitkänen E;Heider D;Wenke NK;Kaissis G;Rueckert D;Kacprowski T;Baumbach J

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荟萃分析已被确立为一种有效的方法来结合几个全基因组关联研究(GWAS)的汇总统计。然而,由于存在交叉研究异质性,meta分析的准确性可能会降低。我们提出sPLINK,一个混合联邦和用户友好的工具,它在保持结果准确性的同时对分布式数据集执行隐私感知的GWAS。sPLINK对于跨队列数据的异构分布是健壮的,而元分析在这种情况下会大大失去准确性。sPLINK实现了卡方和线性/逻辑回归测试的实际运行时和可接受的网络使用。sPLINK可在https://exbio.wzw.tum.de/splink上获得。在线版本包含补充材料,可在(10.1186/s13059-021-02562-1)获得。
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. The online version contains supplementary material available at (10.1186/s13059-021-02562-1).
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