Identification and analysis of methylation call differences between bisulfite microarray and bisulfite sequencing data with statistical learning techniques

Autor: Matthias Döring, Jörn Walter, Nico Pfeifer, Karl Nordström, Pavlo Lutsik, Jasmin Gries, Gilles Gasparoni
Rok vydání: 2015
Předmět:
Zdroj: BMC Bioinformatics
Highlights from the Third International Society for Computational Biology (ISCB) European Student Council Symposium 2014
ISSN: 1471-2105
DOI: 10.1186/1471-2105-16-s3-a7
Popis: Background DNA methylation is an epigenetic modification known to play a prime role in gene silencing and is an important topic in epigenetic research. However, due to technology-dependent errors there are inconsistencies between methylation measurements from different methods [1]. Incorrect methylation calls could result in the discovery of spurious associations between methylation patterns and specific phenotypes in epigenomewide association studies (EWAS). We worked towards assigning a measure of confidence to individual CpGs to down-weigh or exclude positions with inconsistent measurements in such studies. We used methylation measurements from the Infinium HumanMethylation450 microarray (b450K) and whole genome bisulfite sequencing (bWGBS) to evaluate whether locus-specific measurement differences, Δb = b450K − bWGBS, are predictable using statistical learning techniques.
Databáze: OpenAIRE