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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Fan, Y; Vilgalys, TP; Sun, S; Peng, Q; Tung, J; Zhou, X

Published Date

  • October 2019

Published In

Volume / Issue

  • 20 / 1

Start / End Page

  • 220 -

PubMed ID

  • 31651351

Pubmed Central ID

  • PMC6813132

Electronic International Standard Serial Number (EISSN)

  • 1474-760X

International Standard Serial Number (ISSN)

  • 1474-7596

Digital Object Identifier (DOI)

  • 10.1186/s13059-019-1813-1


  • eng