Evidence map›Paper›PMID 42046229›Full record

ArticleBioinformatics (Oxford, England)2026

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

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

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Guanlan DongDivision of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, United States.ORCID 0000-0002-4747-6036
Nazia HilalDivision of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, United States.
Shayna MallettDivision of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, United States.
Bowen JinDivision of Neuropathology, Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, United States.
Shulin MaoDivision of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, United States.
Monica Devi ManamDivision of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, United States.
Diane D ShaoDivision of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, United States.
Sangita ChoudhuryDivision of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, United States.
August Yue HuangDivision of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, United States.
Eunjung Alice LeeDivision of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, United States.ORCID 0000-0002-6574-9261

Funding

Data Analysis Center for Somatic Mosaicism Across Human Tissues NetworkUM1DA058230 · NIDA · HARVARD MEDICAL SCHOOL · PI Peter J Park · 2023 to 2026
$6.3M
Role of clonal somatic mutations in microglia and Alzheimer’s diseaseR01AG088082 · NIA · BOSTON CHILDREN'S HOSPITAL · PI Yue Huang · 2024 to 2026
$4.4M
Role of transposon dysregulation in Alzheimer and aging brains revealed by single-cell genomic and transcriptomic analysisR01AG078929 · NIA · BOSTON CHILDREN'S HOSPITAL · PI Alice Eunjung Lee, Christopher A. Walsh · 2022 to 2026
$4.3M
Rates and mechanisms of age-related somatic mutation in normal and Alzheimer brainR01AG070921 · NIA · BOSTON CHILDREN'S HOSPITAL · PI LEE, ALICE EUNJUNG, WALSH, CHRISTOPHER A. · 2021 to 2025
$4.3M
Detection and Characterization of Somatic Mutations in Human Tissue Utilizing Duplex-Consensus SequencingUH3NS132144 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI Sangita Choudhury, Alice Eunjung Lee · 2025 to 2026
$1.5M
Role of clonal somatic mutations in microglia activation and Alzheimer’s diseaseR56AG079857 · NIA · BOSTON CHILDREN'S HOSPITAL · PI HUANG, YUE, LEE, EUNJUNG ALICE · 2023 to 2023
$883k
Alzheimer's Association Research FellowshipAmerican Heart Association pre-doctoral fellowshipNIA NIH HHS R01 AG070921NIA NIH HHS R01 AG078929NIA NIH HHS R01 AG088082NIA NIH HHS R56 AG079857NIDA NIH HHS UM1 DA058230NIH HHS R01AG070921NIH HHS R01AG078929NIH HHS R01AG088082NIH HHS R56AG079857NIH HHS UH3NS132144NIH HHS UM1DA058230NINDS NIH HHS UH3 NS132144Suh Kyungbae Foundation
6 · The paper itself

Abstract

summaryDuplex-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.

Indexed as

INDEL MutationSequence Analysis, DNASoftwareTransposasesCell Line, TumorDNA Mutational AnalysisHumansTn5 transposaseTransposases

Identifiers

PMID42046229
PMCPMC13171174

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.