Duplex-Indel: a Snakemake pipeline for somatic Indel calling in Tn5 transposase-based duplex sequencing data

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Authors: Guanlan Dong, Nazia Hilal, Shayna Mallett, Bowen Jin, Shulin Mao, Monica Devi Manam, Diane D. Shao, Sangita Choudhury, August Yue Huang, Eunjung Alice Lee
Cited by: 1
References: 22

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