MIRACUM-Pipe: An Adaptable Pipeline for Next-Generation Sequencing Analysis, Reporting, and Visualization for Clinical Decision Making

Cancers (Basel). 2023 Jul 1;15(13):3456. doi: 10.3390/cancers15133456.

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; computational biology; molecular tumor board; next-generation sequencing; pipeline; precision oncology; software; somatic variant calling; workflow.

Grants and funding

This work was funded by the German Federal Ministry of Education and Research (BMBF) by MIRACUM within the Medical Informatics Funding Scheme (01ZZ1801B to P.M. and M.B., 01ZZ1801A to J.C. and P.U.). EkoEstMed–FKZ 01ZZ2015 to G.A. A.L.I. is supported by a Mildred-Scheel-Professorship Grant by the German Cancer Aid (#70114112). H.B. acknowledges funding by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) under Germany’s Excellence Strategy—EXC 22167-390884018.