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Related Experiment Video

Updated: Jan 13, 2026

Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
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MobiCT: a UMI-based circulating tumor DNA analysis pipeline.

Simon Cabello-Aguilar1,2, Charles Van Goethem3,2, Jean-Charles Delmas4,2

  • 1Laboratoire de Biologie des Tumeurs Solides, Département de Pathologie et Oncobiologie, CHU Montpellier, Université de Montpellier, 34295, Montpellier, France.

NAR Genomics and Bioinformatics
|January 8, 2026
PubMed
Summary

MobiCT is a new bioinformatics pipeline that accurately detects ultra-low-frequency variants in cell-free DNA using unique molecular identifiers (UMIs). It achieves high sensitivity and precision, making it valuable for cancer research and clinical applications.

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Area of Science:

  • Bioinformatics
  • Genomics
  • Molecular Biology

Background:

  • Cell-free DNA (cfDNA) analysis is crucial for non-invasive disease detection.
  • Detecting ultra-low-frequency variants in cfDNA presents significant technical challenges.
  • Existing bioinformatics tools may lack the sensitivity required for ultra-low-frequency variant detection.

Purpose of the Study:

  • To develop and validate a bioinformatics pipeline, MobiCT, for sensitive detection of ultra-low-frequency variants in cfDNA.
  • To improve the accuracy and reliability of variant calling in cfDNA samples.
  • To provide a robust tool for both research and clinical applications in cfDNA analysis.

Main Methods:

  • MobiCT pipeline utilizes unique molecular identifiers (UMIs) for accurate variant detection.
  • The pipeline involves three stages: UMI deduplication, alignment to a reference genome, and variant calling.
  • Implementation follows Nextflow and nf-core guidelines to ensure reproducibility.

Main Results:

  • MobiCT demonstrated high performance in detecting ultra-low-frequency variants.
  • Validation using cancer patient and control samples showed sensitivity, precision, and F1-score around 90%.
  • The pipeline ensures reliability and reproducibility, crucial for clinical translation.

Conclusions:

  • MobiCT is a reliable and reproducible bioinformatics pipeline for detecting ultra-low-frequency variants in cfDNA.
  • Its high accuracy makes it suitable for advancing cancer research and clinical diagnostics.
  • The pipeline enhances the utility of cfDNA analysis for precision medicine.