# Detecting foldback artifacts in long-reads

**Authors:** Jakob M. Heinz, Matthew Meyerson, Heng Li

PMC · DOI: 10.1186/s12864-025-12492-y · BMC Genomics · 2026-01-07

## TL;DR

This paper introduces Breakinator, a tool to detect foldback and chimeric artifacts in long-read sequencing data, improving the accuracy of structural variant calls.

## Contribution

The novel contribution is the development of Breakinator, an open-source tool that detects foldback artifacts missed by existing quality control methods.

## Key findings

- Breakinator successfully identifies foldback and chimeric artifacts in long-read data.
- Foldback artifacts were found to occur across various sequencing platforms and conditions.
- The tool improves the reliability of structural variant detection in long-read sequencing.

## Abstract

Long-read sequencing data is useful for detecting large and complex structural variations; however, technical artifacts can lead to false structural variant calls. In our analyses, we became aware of a foldback artifact in long-read data. Therefore, we developed the open-source Breakinator tool to flag putative foldback artifact reads, as well as previously known chimeric artifacts. Through an alignment-based approach, Breakinator can detect artifacts missed by existing quality control tools. We profiled the occurrences of foldbacks and chimeric reads in both Oxford Nanopore and PacBio sequences across a range of specimens, library types, sequencing chemistries, sequencing machines, and base-calling software.

The online version contains supplementary material available at 10.1186/s12864-025-12492-y.

## Full-text entities

- **Diseases:** ONT (MESH:C000719218), cancer (MESH:D009369)
- **Chemicals:** eGFP (-)
- **Species:** Balantiopteryx io (Thomas's sac-winged bat, species) [taxon 463801], Mus musculus (house mouse, species) [taxon 10090], Homo sapiens (human, species) [taxon 9606]
- **Mutations:** T2T
- **Cell lines:** K562 — Homo sapiens (Human), Blast phase chronic myelogenous leukemia, BCR-ABL1 positive, Cancer cell line (CVCL_0004), HG002 — Homo sapiens (Human), Transformed cell line (CVCL_1C78), HCC1395 — Homo sapiens (Human), Breast ductal carcinoma, Cancer cell line (CVCL_1249)

## Full text

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## Figures

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## References

11 references — full list in the complete paper: https://tomesphere.com/paper/PMC12870357/full.md

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Source: https://tomesphere.com/paper/PMC12870357