MobiCT: a UMI-based circulating tumor DNA analysis pipeline
Year: 2025
Type: article
Abstract: 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.
Source: NAR Genomics and Bioinformatics
Institutions: Université de Montpellier, Centre Hospitalier Universitaire de Montpellier, Institut Universitaire de Recherche Clinique, Inserm, Institute for Regenerative Medicine & Biotherapy, Centre de Référence des Maladies Autoinflammatoires et des Amyloses, Centre National de la Recherche Scientifique, Physiologie et Médecine Expérimentale du Coeur et des Muscles, Institut de Recherche en Cancérologie de Montpellier
Language: English
Subfield: Cancer Research
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,766
OpenAlex ID: W7118439482