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用于整合 eQTL 和 GWAS 汇总数据的强大框架。

A Powerful Framework for Integrating eQTL and GWAS Summary Data.

机构信息

Division of Biostatistics, School of Public Health, University of Minnesota, Minneapolis, Minnesota 55455.

Department of Biostatistics, University of Texas MD Anderson Cancer Center, Houston, Texas 77030.

出版信息

Genetics. 2017 Nov;207(3):893-902. doi: 10.1534/genetics.117.300270. Epub 2017 Sep 11.

Abstract

Two new gene-based association analysis methods, called and for GWAS individual-level and summary data, respectively, were recently proposed to integrate GWAS with eQTL data, alleviating two common problems in GWAS by boosting statistical power and facilitating biological interpretation of GWAS discoveries. Based on a novel reformulation of PrediXcan and TWAS, we propose a more powerful gene-based association test to integrate single set or multiple sets of eQTL data with GWAS individual-level data or summary statistics. The proposed test was applied to several GWAS datasets, including two lipid summary association datasets based on [Formula: see text] and [Formula: see text] samples, respectively, and uncovered more known or novel trait-associated genes, showcasing much improved performance of our proposed method. The software implementing the proposed method is freely available as an R package.

摘要

最近提出了两种新的基于基因的关联分析方法,分别称为 和 ,用于 GWAS 个体水平和汇总数据,以整合 GWAS 与 eQTL 数据,通过提高统计能力和促进 GWAS 发现的生物学解释来缓解 GWAS 的两个常见问题。基于 PrediXcan 和 TWAS 的新公式化,我们提出了一种更强大的基于基因的关联测试方法,以整合单个或多个 eQTL 数据集与 GWAS 个体水平数据或汇总统计数据。该测试应用于多个 GWAS 数据集,包括基于 [Formula: see text] 和 [Formula: see text] 样本的两个脂质汇总关联数据集,揭示了更多已知或新的与特征相关的基因,展示了我们提出的方法的性能有了很大提高。实现所提出方法的软件可作为 R 包免费提供。

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