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一分数统御一切:利用全基因组关联研究汇总统计数据进行正则化集成多基因风险预测

One score to rule them all: regularized ensemble polygenic risk prediction with GWAS summary statistics.

作者信息

Zhao Zijie, Dorn Stephen, Wu Yuchang, Yang Xiaoyu, Jin Jin, Lu Qiongshi

机构信息

Department of Biostatistics and Medical Informatics, University of Wisconsin-Madison, Madison, WI.

Department of Biostatistics, Epidemiology and Bioinformatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.

出版信息

bioRxiv. 2024 Dec 4:2024.11.27.625748. doi: 10.1101/2024.11.27.625748.

DOI:10.1101/2024.11.27.625748
PMID:39677614
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11642782/
Abstract

Ensemble learning has been increasingly popular for boosting the predictive power of polygenic risk scores (PRS), with almost every recent multi-ancestry PRS approach employing ensemble learning as a final step. Existing ensemble approaches rely on individual-level data for model training, which severely limits their real-world applications, especially in non-European populations without sufficient genomic samples. Here, we introduce a statistical framework to construct regularized ensemble PRS, which allows us to combine a large number of candidate PRS models using only summary statistics from genome-wide association studies. We demonstrate its robust and substantial improvement over many existing PRS models in both within- and cross-ancestry applications. We believe this is truly "one score to rule them all" due to its capability to continuously combine newly developed PRS models with existing models to improve prediction performance, which makes it a universal approach that should always be employed in future PRS applications.

摘要

集成学习在增强多基因风险评分(PRS)的预测能力方面越来越受欢迎,几乎最近每一种多血统PRS方法都将集成学习作为最后一步。现有的集成方法依赖个体水平的数据进行模型训练,这严重限制了它们在现实世界中的应用,尤其是在没有足够基因组样本的非欧洲人群中。在这里,我们引入了一个统计框架来构建正则化集成PRS,这使我们能够仅使用全基因组关联研究的汇总统计信息来组合大量候选PRS模型。我们证明了它在血统内和跨血统应用中相对于许多现有PRS模型都有稳健且显著的改进。我们相信这才是真正的“一统天下的分数”,因为它有能力将新开发的PRS模型与现有模型持续结合以提高预测性能,这使其成为一种通用方法,应始终用于未来的PRS应用中。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8913/11642782/11bffd897834/nihpp-2024.11.27.625748v2-f0006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8913/11642782/04754d88ad58/nihpp-2024.11.27.625748v2-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8913/11642782/cc2dce0a2de2/nihpp-2024.11.27.625748v2-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8913/11642782/50b903af31d5/nihpp-2024.11.27.625748v2-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8913/11642782/4a4bd07a4b7a/nihpp-2024.11.27.625748v2-f0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8913/11642782/2befb6bc9ee9/nihpp-2024.11.27.625748v2-f0005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8913/11642782/11bffd897834/nihpp-2024.11.27.625748v2-f0006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8913/11642782/04754d88ad58/nihpp-2024.11.27.625748v2-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8913/11642782/cc2dce0a2de2/nihpp-2024.11.27.625748v2-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8913/11642782/50b903af31d5/nihpp-2024.11.27.625748v2-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8913/11642782/4a4bd07a4b7a/nihpp-2024.11.27.625748v2-f0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8913/11642782/2befb6bc9ee9/nihpp-2024.11.27.625748v2-f0005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8913/11642782/11bffd897834/nihpp-2024.11.27.625748v2-f0006.jpg

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本文引用的文献

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