Metzger P, Hess ME, Blaumeiser A, Pauli T, Schipperges V, Mertes R, Christoph J, Unberath P, Reimer N, Scheible R, Illert AL, Busch H, Andrieux G, Boerries M (2023)
Publication Type: Journal article
Publication year: 2023
Book Volume: 15
Article Number: 3456
Journal Issue: 13
(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.
APA:
Metzger, P., Hess, M.E., Blaumeiser, A., Pauli, T., Schipperges, V., Mertes, R.,... Boerries, M. (2023). MIRACUM-Pipe: An Adaptable Pipeline for Next-Generation Sequencing Analysis, Reporting, and Visualization for Clinical Decision Making. Cancers, 15(13). https://doi.org/10.3390/cancers15133456
MLA:
Metzger, Patrick, et al. "MIRACUM-Pipe: An Adaptable Pipeline for Next-Generation Sequencing Analysis, Reporting, and Visualization for Clinical Decision Making." Cancers 15.13 (2023).
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