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

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. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

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Publication Details

Journal
Bioinformatics
Published
2026-04-25
DOI
https://doi.org/10.1093/bioinformatics/btag205
Primary Topic
Genomic variations and chromosomal abnormalities
Type
article
Field-Weighted Citation Impact
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article

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

August Yue Huang, Eunjung Alice Lee, Guanlan Dong, Nazia Hilal et al.
Bioinformatics
Genomic variations and chromosomal abnormalities
article

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

August Yue Huang, Eunjung Alice Lee, Guanlan Dong, Nazia Hilal, Diane D. Shao, Bowen Jin, Shulin Mao, Monica Devi Manam, Sangita Choudhury, Shayna Mallett
article en

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. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Bioinformatics
Broad Institute (US), Brigham and Women's Hospital (US), Boston Children's Hospital (US), Harvard University (US), Institut thématique Génétique, génomique et bioinformatique (FR), Boston Children's Museum (US)
Openalex Percentile: Top 5%
Genomic variations and chromosomal abnormalities
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