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多基因风险指数知识库资源简介和用户指南。

Resource profile and user guide of the Polygenic Index Repository.

机构信息

Department of Economics, New York University, New York, NY, USA.

Department of Economics, School of Business and Economics, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.

出版信息

Nat Hum Behav. 2021 Dec;5(12):1744-1758. doi: 10.1038/s41562-021-01119-3. Epub 2021 Jun 17.

Abstract

Polygenic indexes (PGIs) are DNA-based predictors. Their value for research in many scientific disciplines is growing rapidly. As a resource for researchers, we used a consistent methodology to construct PGIs for 47 phenotypes in 11 datasets. To maximize the PGIs' prediction accuracies, we constructed them using genome-wide association studies-some not previously published-from multiple data sources, including 23andMe and UK Biobank. We present a theoretical framework to help interpret analyses involving PGIs. A key insight is that a PGI can be understood as an unbiased but noisy measure of a latent variable we call the 'additive SNP factor'. Regressions in which the true regressor is this factor but the PGI is used as its proxy therefore suffer from errors-in-variables bias. We derive an estimator that corrects for the bias, illustrate the correction, and make a Python tool for implementing it publicly available.

摘要

多基因指数 (PGI) 是基于 DNA 的预测因子。它们在许多科学学科的研究中的价值正在迅速增长。作为研究人员的资源,我们使用一致的方法来构建 11 个数据集 47 个表型的 PGI。为了最大限度地提高 PGI 的预测准确性,我们使用来自多个数据源的全基因组关联研究构建了它们,包括 23andMe 和 UK Biobank。我们提出了一个理论框架来帮助解释涉及 PGI 的分析。一个关键的见解是,PGI 可以被理解为一个潜在变量的无偏但嘈杂的度量,我们称之为“加性 SNP 因子”。因此,在真实回归因子是这个因子但 PGI 被用作其代理的回归中,会存在变量误差偏差。我们推导出一个纠正偏差的估计器,说明了纠正过程,并公开提供了一个用于实现它的 Python 工具。

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