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.
Authors
- August Yue Huang (ORCID: https://orcid.org/0000-0002-0416-2854)
- Eunjung Alice Lee (ORCID: https://orcid.org/0000-0002-6574-9261)
- Guanlan Dong (ORCID: https://orcid.org/0000-0002-4747-6036)
- Nazia Hilal
- Diane D. Shao (ORCID: https://orcid.org/0000-0003-2087-4082)
- Bowen Jin (ORCID: https://orcid.org/0000-0002-9958-5824)
- Shulin Mao (ORCID: https://orcid.org/0000-0003-2916-6701)
- Monica Devi Manam
- Sangita Choudhury
- Shayna Mallett
Institutions
- 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)
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
- 0.00