MobiCT: a UMI-based circulating tumor DNA analysis pipeline
MobiCT is a bioinformatics pipeline designed to detect ultra-low-frequency variants present in cell-free DNA samples using unique molecular identifier (UMI). The pipeline is composed of three main stages: (i) UMI deduplication, (ii) alignment to reference genome, and (iii) variant calling. It has been validated using a range of cancer patients and control samples, demonstrating sensitivity, precision, and F1-score around 90%. Implemented in Nextflow, following the nf-core guidelines, MobiCT ensures reliability and reproducibility, making it suitable for both research and clinical applications.
Authors
- Julie A. Vendrell (ORCID: https://orcid.org/0000-0002-2071-6634)
- Romain Senal
- Charles Van Goethem (ORCID: https://orcid.org/0000-0002-8769-5719)
- Mireille Cossée (ORCID: https://orcid.org/0000-0002-5931-7454)
- Solassol Jerome
- J. Delmas
- Olivier Ardouin
- Oussama Bourbia
- Simon Cabello-Aguilar
Institutions
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- Université de Montpellier (FR)
- Physiologie et Médecine Expérimentale du Coeur et des Muscles (FR)
- Montpellier GenomiX (FR)
- Centre de Référence des Maladies Autoinflammatoires et des Amyloses (FR)
- Institut de Recherche en Cancérologie de Montpellier (FR)
- Institut Universitaire de Recherche Clinique (FR)
Publication Details
- Journal
- NAR Genomics and Bioinformatics
- Published
- 2025-12-31
- DOI
- https://doi.org/10.1093/nargab/lqaf212
- Primary Topic
- Cancer Genomics and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00