Duplex-Indel: a Snakemake pipeline for somatic Indel calling in Tn5 transposase-based duplex sequencing data
Abstract
SUMMARY: Duplex-Indel is a novel Snakemake workflow for detecting somatic small insertions and deletions (Indels) from Tn5 transposase-based duplex sequencing data. Duplex-Indel enhances the accuracy of mutation calling at the single-molecule level by requiring consensus support from both DNA strands for each somatic Indel, minimizing confounding from technical artifacts. Duplex-Indel extends somatic mutation calling in Tn5 transposase-based duplex sequencing data to include Indels. We have demonstrated the accuracy and robustness of Duplex-Indel using cancer cell lines. AVAILABILITY AND IMPLEMENTATION: Source code and documentation are available under the MIT license on GitHub at https://github.com/ealee-lab/duplex-indel and archived on Zenodo at https://doi.org/10.5281/zenodo.19228799.
Fields of Study & Subjects
Genomic variations and chromosomal abnormalities
Cancer Genomics and Diagnostics
Genomics and Phylogenetic Studies
Publication details
- Journal / source
- Bioinformatics
- Publisher
- Oxford University Press (OUP)
- Volume
- 42
- Issue
- 5
- Publication date
- 25 April 2026
- Language
- EN