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@ARTICLE{Afzal:124312,
author = {S. Afzal$^*$ and S. Wilkening$^*$ and C. von Kalle$^*$ and
M. Schmidt$^*$ and R. Fronza$^*$},
title = {{GENE}-{IS}: {T}ime-{E}fficient and {A}ccurate {A}nalysis
of {V}iral {I}ntegration {E}vents in {L}arge-{S}cale {G}ene
{T}herapy {D}ata.},
journal = {Molecular Therapy / Nucleic Acids},
volume = {6},
issn = {2162-2531},
address = {New York, NY},
publisher = {Nature Publ. Group},
reportid = {DKFZ-2017-01208},
pages = {133 - 139},
year = {2017},
abstract = {Integration site profiling and clonality analysis of viral
vector distribution in gene therapy is a key factor to
monitor the fate of gene-corrected cells, assess the risk of
malignant transformation, and establish vector biosafety. We
developed the Genome Integration Site Analysis Pipeline
(GENE-IS) for highly time-efficient and accurate detection
of next-generation sequencing (NGS)-based viral vector
integration sites (ISs) in gene therapy data. It is the
first available tool with dual analysis mode that allows IS
analysis both in data generated by PCR-based methods, such
as linear amplification method PCR (LAM-PCR), and by rapidly
evolving targeted sequencing (e.g., Agilent SureSelect)
technologies. GENE-IS makes use of trimming strategies,
customized reference genome, and soft-clipped information
with sequential filtering steps to provide annotated IS with
clonality information. It is a scalable, robust, precise,
and reliable tool for large-scale pre-clinical and clinical
data analysis that provides users complete flexibility and
control over analysis with a broad range of configurable
parameters. GENE-IS is available at
https://github.com/G100DKFZ/gene-is.},
cin = {G010 / G100},
ddc = {610},
cid = {I:(DE-He78)G010-20160331 / I:(DE-He78)G100-20160331},
pnm = {317 - Translational cancer research (POF3-317)},
pid = {G:(DE-HGF)POF3-317},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:28325279},
pmc = {pmc:PMC5363413},
doi = {10.1016/j.omtn.2016.12.001},
url = {https://inrepo02.dkfz.de/record/124312},
}