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在GAW20中检测甲基化与甘油三酯水平变化之间的关联时,评估基于基因的基因关联测试的性能。

Evaluating the performance of gene-based tests of genetic association when testing for association between methylation and change in triglyceride levels at GAW20.

作者信息

Vander Woude Jason, Huisman Jordan, Vander Berg Lucas, Veenstra Jenna, Bos Abbey, Kalsbeek Anya, Koster Karissa, Ryder Nathan, Tintle Nathan L

机构信息

1Department of Mathematics and Statistics, Dordt College, 498 4th Ave. NE, Sioux Center, IA 51250 USA.

2Department of Computer Science, Dordt College, 498 4th Ave. NE, Sioux Center, IA 51250 USA.

出版信息

BMC Proc. 2018 Sep 17;12(Suppl 9):50. doi: 10.1186/s12919-018-0124-y. eCollection 2018.

Abstract

Although methylation data continues to rise in popularity, much is still unknown about how to best analyze methylation data in genome-wide analysis contexts. Given continuing interest in gene-based tests for next-generation sequencing data, we evaluated the performance of novel gene-based test statistics on simulated data from GAW20. Our analysis suggests that most of the gene-based tests are detecting real signals and maintaining the Type I error rate. The minimum value and threshold-based tests performed well compared to single-marker tests in many cases, especially when the number of variants was relatively large with few true causal variants in the set.

摘要

尽管甲基化数据的受欢迎程度持续上升,但在全基因组分析背景下如何最佳地分析甲基化数据仍有许多未知之处。鉴于对下一代测序数据基于基因的检测持续感兴趣,我们评估了基于基因的新型检验统计量在GAW20模拟数据上的性能。我们的分析表明,大多数基于基因的检验正在检测真实信号并维持I型错误率。在许多情况下,与单标记检验相比,基于最小值和阈值的检验表现良好,尤其是当变异数量相对较多而集合中真正的因果变异较少时。

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