Evidence map›Paper›PMID 41102185›Full record

ArticleNature communications2025

Image-based DNA sequencing encoding for detecting low-mosaicism somatic mobile element insertions.

Miaomiao Tan, Zhinan Lin, Zhuofu Chen, Haonan Zhou, Junseok Park, Ziting He, Eunjung A Lee, Zhipeng Gao, Xiaowei Zhu

Abstract read
In one paragraph

Article in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Miaomiao Tan *Key Laboratory of Artificial Organs and Computational Medicine in Zhejiang Province, Institute of Translational Medicine, Zhejiang Shuren University, Hangzhou, China.
Zhinan Lin *Department of Neuroscience, City University of Hong Kong, Hong Kong SAR, China.ORCID http://orcid.org/0009-0007-5416-6961
Zhuofu ChenDepartment of Neuroscience, City University of Hong Kong, Hong Kong SAR, China.ORCID http://orcid.org/0009-0001-9002-7156
Haonan ZhouDepartment of Neuroscience, City University of Hong Kong, Hong Kong SAR, China.
Junseok ParkDivision of Genetics and Genomics, Boston Children's Hospital, 3 Blackfan Circle, Boston, MA, USA.
Ziting HeDepartment of Neuroscience, City University of Hong Kong, Hong Kong SAR, China.
Eunjung A LeeDivision of Genetics and Genomics, Boston Children's Hospital, 3 Blackfan Circle, Boston, MA, USA.ORCID http://orcid.org/0000-0002-6574-9261
Zhipeng GaoShanghai Institute for Advanced Study, Zhejiang University, Hangzhou, China.
Xiaowei ZhuDepartment of Neuroscience, City University of Hong Kong, Hong Kong SAR, China. xiaowei.zhu@cityu.edu.hk.ORCID http://orcid.org/0000-0002-5731-3177

Funding

City University of Hong Kong (CityU) 9445906City University of Hong Kong (CityU) 9610590City University of Hong Kong (CityU) SFA 000376City University of Hong Kong (CityU) SFA 000622City University of Hong Kong (CityU) SFA 000782City University of Hong Kong (CityU) SFA 000786City University of Hong Kong (CityU) SFA 000836Innovation and Technology Fund (ITF) ITS/101/22Research Grants Council, University Grants Committee (RGC, UGC) 11105123Research Grants Council, University Grants Committee (RGC, UGC) 21104822
6 · The paper itself

Abstract

Active mobile elements in the human genome can create novel mobile element insertions (MEIs) in somatic tissues. Detection of somatic MEIs, particularly those with low mosaicism, remains a significant challenge due to sequencing artifacts and alignment errors. Existing methods lack sensitivity or require biased manual inspection. Here we present RetroNet, a deep learning algorithm that encodes sequencing reads into images to identify somatic MEIs with as few as two reads. Trained on diverse datasets, RetroNet outperforms previous methods and eliminates the need for manual examinations. RetroNet achieves high precision (0.885) and recall (0.579) on a cancer cell line, detecting insertions in just 1.79% of cells. RetroNet is also effective for degraded DNA, like circulating tumor DNA. This tool is applicable to the rapidly generated short-read sequencing data and has the potential to provide further insights into the functional and pathological implications of somatic retrotranspositions.

Indexed as

MosaicismMutagenesis, InsertionalSequence Analysis, DNAAlgorithmsCell Line, TumorDeep LearningGenome, HumanHigh-Throughput Nucleotide SequencingHumansNeoplasms

Identifiers

PMID41102185
PMCPMC12533184

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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.