Filtering of artificial chimeric reads generated by ligation preparation method of nanopore sequencing

Nanopore sequencing provides long and ultra-long reads that are valuable for structural variation (SV) detection and genome assembly. However, false-positive chimeric reads can arise and interfere with somatic SV calling. Here, we show that ligation-based library preparation generates false-positive chimeric reads, particularly inverted repeats, in both microbial and human DNA standards. The proportion of inverted repeats ranged from 0.18% to 7.33%, exceeding those observed in rapid and modified rapid preparations. Analysis of raw electrical signals revealed a characteristic smoothed segment at junction sites in nearly half of these chimeric reads. Based on these features, we developed a ResNet-based deep learning classifier to identify false-positive chimeric reads. The model achieved high accuracy in both human and microbial datasets and substantially reduced SV calling errors after filtering. These results demonstrate that library preparation-induced chimeric reads can be effectively detected and mitigated, improving the reliability of nanopore-based SV analysis.

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Publication Details

Journal
iScience
Published
2026-04-14
DOI
https://doi.org/10.1016/j.isci.2026.115695
Primary Topic
Nanopore and Nanochannel Transport Studies
Type
article
Field-Weighted Citation Impact
0.00

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article

Filtering of artificial chimeric reads generated by ligation preparation method of nanopore sequencing

Zhiguo Fu, Ming Ni, Zihan Xie, Fuqiang Ye et al.
iScience
Nanopore and Nanochannel Transport Studies
article

Filtering of artificial chimeric reads generated by ligation preparation method of nanopore sequencing

Zhiguo Fu, Ming Ni, Zihan Xie, Fuqiang Ye, Fengqin Yang, Jiarong Zhang, Tingting Yang, Xiaochen Bo
article en

Abstract

Nanopore sequencing provides long and ultra-long reads that are valuable for structural variation (SV) detection and genome assembly. However, false-positive chimeric reads can arise and interfere with somatic SV calling. Here, we show that ligation-based library preparation generates false-positive chimeric reads, particularly inverted repeats, in both microbial and human DNA standards. The proportion of inverted repeats ranged from 0.18% to 7.33%, exceeding those observed in rapid and modified rapid preparations. Analysis of raw electrical signals revealed a characteristic smoothed segment at junction sites in nearly half of these chimeric reads. Based on these features, we developed a ResNet-based deep learning classifier to identify false-positive chimeric reads. The model achieved high accuracy in both human and microbial datasets and substantially reduced SV calling errors after filtering. These results demonstrate that library preparation-induced chimeric reads can be effectively detected and mitigated, improving the reliability of nanopore-based SV analysis.

iScienceVol. 29(5)
Shanxi Medical University (CN), Northeast Normal University (CN), Academy of Military Medical Sciences (CN), Huadong Hospital (CN), Beijing University of Chemical Technology (CN)
Northeast Normal University, National Natural Science Foundation of China
Openalex Percentile: Top 30%
Nanopore and Nanochannel Transport Studies
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