IMAGE: high-powered detection of genetic effects on DNA methylation using integrated methylation QTL mapping and allele-specific analysis
IMAGE: high-powered detection of genetic effects on DNA methylation using integrated methylation QTL mapping and allele-specific analysis
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DOI：
10.1186/s13059-019-1813-1
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发表时间：
2019-10-24
期刊：
影响因子：
12.3
通讯作者：
Zhou, Xiang
中科院分区：
文献类型：
--
作者：
Fan, Yue;Vilgalys, Tauras P.;Zhou, Xiang
识别与甲基化变异相关的遗传变异-通常称为甲基化数量性状基因座（mQTL）定位的分析-对于理解基因型-性状相关的表观遗传机制非常重要。在这里，我们开发了一种统计方法，IMAGE，用于基于测序的甲基化研究中的mQTL定位。IMAGE正确地解释了亚硫酸氢盐测序数据的计数性质，并结合了来自杂合个体的等位基因特异性甲基化模式，以实现更强大的mQTL发现。我们通过大量的模拟比较IMAGE与现有的方法。我们还应用IMAGE分析了两个亚硫酸氢盐测序研究，其中IMAGE比现有方法识别了更多的mQTL。
Identifying genetic variants that are associated with methylation variation-an analysis commonly referred to as methylation quantitative trait locus (mQTL) mapping-is important for understanding the epigenetic mechanisms underlying genotype-trait associations. Here, we develop a statistical method, IMAGE, for mQTL mapping in sequencing-based methylation studies. IMAGE properly accounts for the count nature of bisulfite sequencing data and incorporates allele-specific methylation patterns from heterozygous individuals to enable more powerful mQTL discovery. We compare IMAGE with existing approaches through extensive simulation. We also apply IMAGE to analyze two bisulfite sequencing studies, in which IMAGE identifies more mQTL than existing approaches.