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@ARTICLE{Metzger:277721,
author = {P. Metzger and M. E. Hess and A. Blaumeiser$^*$ and T.
Pauli and V. Schipperges and R. Mertes and J. Christoph and
P. Unberath and N. Reimer and R. Scheible and A. L.
Illert$^*$ and H. Busch and G. Andrieux and M. Börries$^*$},
title = {{MIRACUM}-{P}ipe: {A}n {A}daptable {P}ipeline for
{N}ext-{G}eneration {S}equencing {A}nalysis, {R}eporting,
and {V}isualization for {C}linical {D}ecision {M}aking.},
journal = {Cancers},
volume = {15},
number = {13},
issn = {2072-6694},
address = {Basel},
publisher = {MDPI},
reportid = {DKFZ-2023-01438},
pages = {3456},
year = {2023},
abstract = {(1) Background: Next-generation sequencing (NGS) of
patients with advanced tumors is becoming an established
method in Molecular Tumor Boards. However, somatic variant
detection, interpretation, and report generation, require
in-depth knowledge of both bioinformatics and oncology. (2)
Methods: MIRACUM-Pipe combines many individual tools into a
seamless workflow for comprehensive analyses and annotation
of NGS data including quality control, alignment, variant
calling, copy number variation estimation, evaluation of
complex biomarkers, and RNA fusion detection. (3) Results:
MIRACUM-Pipe offers an easy-to-use, one-prompt standardized
solution to analyze NGS data, including quality control,
variant calling, copy number estimation, annotation,
visualization, and report generation. (4) Conclusions:
MIRACUM-Pipe, a versatile pipeline for NGS, can be
customized according to bioinformatics and clinical needs
and to support clinical decision-making with visual
processing and interactive reporting.},
keywords = {bioinformatics (Other) / computational biology (Other) /
molecular tumor board (Other) / next-generation sequencing
(Other) / pipeline (Other) / precision oncology (Other) /
software (Other) / somatic variant calling (Other) /
workflow (Other)},
cin = {FR01 / MU01},
ddc = {610},
cid = {I:(DE-He78)FR01-20160331 / I:(DE-He78)MU01-20160331},
pnm = {899 - ohne Topic (POF4-899)},
pid = {G:(DE-HGF)POF4-899},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:37444566},
pmc = {pmc:PMC10340358},
doi = {10.3390/cancers15133456},
url = {https://inrepo02.dkfz.de/record/277721},
}