MIRACUM-Pipe : : an adaptable pipeline for next-generation <br>sequencing analysis, reporting, and visualization for clinical decision making
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
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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Cancers. - 15, 13 (2023) , 3456, ISSN: 2072-6694
- Event
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Veröffentlichung
- (where)
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Freiburg
- (who)
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Universität
- (when)
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2023
- Creator
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Metzger, Patrick
Hess, Maria Elena
Blaumeiser, Andreas
Pauli, Thomas Dieter
Schipperges, Vincent
Mertes, Ralf
Christoph, Jan
Unberath, Philipp
Reimer, Niklas
Scheible, Raphael
Illert, Anna Lena
Busch, Hauke
Geoffroy, Andrieux
Börries, Melanie
- DOI
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10.3390/cancers15133456
- URN
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urn:nbn:de:bsz:25-freidok-2379606
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:53 AM CEST
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Metzger, Patrick
- Hess, Maria Elena
- Blaumeiser, Andreas
- Pauli, Thomas Dieter
- Schipperges, Vincent
- Mertes, Ralf
- Christoph, Jan
- Unberath, Philipp
- Reimer, Niklas
- Scheible, Raphael
- Illert, Anna Lena
- Busch, Hauke
- Geoffroy, Andrieux
- Börries, Melanie
- Universität
Time of origin
- 2023