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@ARTICLE{Ulrich:186493,
author = {E. Ulrich$^*$ and S. M. Pfister$^*$ and N. Jäger$^*$},
title = {{R}evana: a comprehensive tool for regulatory variant
analysis and visualization of cancer genomes.},
journal = {Bioinformatics},
volume = {39},
number = {1},
issn = {0266-7061},
address = {Oxford},
publisher = {Oxford Univ. Press},
reportid = {DKFZ-2022-03214},
pages = {btac831},
year = {2023},
note = {#EA:B062#LA:B062# / 2023 Jan 1;39(1):btac831},
abstract = {As non-coding driver mutations move more into the focus of
cancer research, a comprehensive and easy to use software
solution for regulatory variant analysis and data
visualization is highly relevant. The interpretation of
regulatory variants in large tumor genome cohorts requires
specialized analysis and visualization of multiple layers of
data, including for example breakpoints of structural
variants, enhancer elements and additional available gene
locus annotation, in the context of changes in gene
expression.We introduce a user-friendly tool, Revana
(REgulatory Variant ANAlysis), that can aggregate and
visually represent regulatory variants from cancer genomes
in a gene-centric manner. It requires whole genome (WGS) and
RNA sequencing (RNA-Seq) data of a cohort of tumor samples
and creates interactive HTML reports summarizing the most
important regulatory events.Revana is implemented in R and
JavaScript. It is available for download as an R package
under <https://github.com/KiTZ-Heidelberg/revana>. Sample
results can be viewed under
<https://github.com/KiTZ-Heidelberg/revana-demo-report> and
a short walkthrough is available under
<https://github.com/KiTZ-Heidelberg/revana-demo-data>.Supplementary
data are available at Bioinformatics online.},
cin = {B062 / HD01},
ddc = {570},
cid = {I:(DE-He78)B062-20160331 / I:(DE-He78)HD01-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:36576005},
doi = {10.1093/bioinformatics/btac831},
url = {https://inrepo02.dkfz.de/record/186493},
}