EpipwR:连续结果 EWAS 的高效功率分析

Jackson P Barth, Austin W. Reynolds
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引用次数: 0

摘要

动机:全表观基因组关联研究(EWAS)已成为研究复杂疾病病理生理学的一种流行方法,并有助于缩小基因型与表型之间的差距。尽管 EWAS 越来越受欢迎,但能帮助研究人员进行功率估算的工具却寥寥无几,而且这些工具仅限于病例对照研究。如果能有用户友好型工具,将功率计算功能扩展到更多的研究设计中,将对规划 EWAS 的研究人员大有帮助。结果我们介绍了 EpipwR,这是一个开源的 R 软件包,可以有效估计连续结果的 EWAS 功率。EpipwR 采用准模拟方法,即只生成与结果相关的甲基化 CpG 位点的数据,而直接生成与结果无关的 CpG 位点的 p 值(必要时)。与现有的 EWAS 功率计算器一样,经验 EWAS 的参考数据集也用于指导数据生成过程。两项模拟研究显示了所选经验数据集对生成相关性的影响,以及 EpipwR 与类似方法相比的相对速度。可用性和实施:EpipwR R软件包目前可在github.com/jbarth216/EpipwR上下载。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
EpipwR: Efficient Power Analysis for EWAS with Continuous Outcomes
Motivation: Epigenome-wide association studies (EWAS) have emerged as a popular way to investigate the pathophysiology of complex diseases and to assist in bridging the gap between genotypes and phenotypes. Despite the increasing popularity of EWAS, very few tools exist to aid researchers in power estimation and those are limited to case-control studies. The existence of user-friendly tools, expanding power calculation functionality to additional study designs would be a significant aid to researchers planning EWAS. Results: We introduce EpipwR, an open-source R package that can efficiently estimate power for EWAS with continuous outcomes. EpipwR uses a quasi-simulated approach, meaning that data is generated only for CpG sites with methylation associated with the outcome, while p-values are generated directly for those with no association (when necessary). Like existing EWAS power calculators, reference datasets of empirical EWAS are used to guide the data generation process. Two simulation studies show the effect of the selected empirical dataset on the generated correlations and the relative speed of EpipwR compared to similar approaches. Availability and Implementation: The EpipwR R-package is currently available for download at github.com/jbarth216/EpipwR.
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