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@ARTICLE{Lienhard:124376,
author = {M. Lienhard and S. Grasse and J. Rolff and S. Frese and U.
Schirmer$^*$ and M. Becker and S. Börno and B. Timmermann
and L. Chavez$^*$ and H. Sültmann$^*$ and G. Leschber and
I. Fichtner and M. R. Schweiger and R. Herwig},
title = {{QSEA}-modelling of genome-wide {DNA} methylation from
sequencing enrichment experiments.},
journal = {Nucleic acids symposium series},
volume = {45},
number = {6},
issn = {0261-3166},
address = {Oxford},
publisher = {Oxford Univ. Press},
reportid = {DKFZ-2017-01255},
pages = {e44 - e44},
year = {2017},
abstract = {Genome-wide enrichment of methylated DNA followed by
sequencing (MeDIP-seq) offers a reasonable compromise
between experimental costs and genomic coverage. However,
the computational analysis of these experiments is complex,
and quantification of the enrichment signals in terms of
absolute levels of methylation requires specific
transformation. In this work, we present QSEA, Quantitative
Sequence Enrichment Analysis, a comprehensive workflow for
the modelling and subsequent quantification of MeDIP-seq
data. As the central part of the workflow we have developed
a Bayesian statistical model that transforms the enrichment
read counts to absolute levels of methylation and, thus,
enhances interpretability and facilitates comparison with
other methylation assays. We suggest several calibration
strategies for the critical parameters of the model, either
using additional data or fairly general assumptions. By
comparing the results with bisulfite sequencing (BS)
validation data, we show the improvement of QSEA over
existing methods. Additionally, we generated a clinically
relevant benchmark data set consisting of methylation
enrichment experiments (MeDIP-seq), BS-based validation
experiments (Methyl-seq) as well as gene expression
experiments (RNA-seq) derived from non-small cell lung
cancer patients, and show that the workflow retrieves
well-known lung tumour methylation markers that are
causative for gene expression changes, demonstrating the
applicability of QSEA for clinical studies. QSEA is
implemented in R and available from the Bioconductor
repository 3.4 (www.bioconductor.org/packages/qsea).},
cin = {B063 / B062},
ddc = {540},
cid = {I:(DE-He78)B063-20160331 / I:(DE-He78)B062-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:27913729},
pmc = {pmc:PMC5389680},
doi = {10.1093/nar/gkw1193},
url = {https://inrepo02.dkfz.de/record/124376},
}