IMAGE: high-powered detection of genetic effects on DNA methylation using integrated methylation QTL mapping and allele-specific analysis

被引：0
作者：
Yue Fan
Tauras P. Vilgalys
Shiquan Sun
Qinke Peng
Jenny Tung
Xiang Zhou
机构：
[1] Xi’an Jiaotong University,Systems Engineering Institute
[2] University of Michigan,Department of Biostatistics
[3] Duke University,Departments of Evolutionary Anthropology and Biology
[4] Duke University,Duke University Population Research Institute
[5] University of Michigan,Center for Statistical Genetics
来源：
Genome Biology | / 20卷
关键词：
Allele-specific methylation; ASM; Methylation quantitative trait locus; mQTL; IMAGE; Bisulfite sequencing; Binomial mixed model; Penalized quasi-likelihood;
D O I：
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摘要：
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.
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