Detecting foldback artifacts in long-reads.

BMC genomics
Authors
Keywords
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.

Year of Publication
2026
Journal
BMC genomics
Date Published
01/2026
ISSN
1471-2164
DOI
10.1186/s12864-025-12492-y
PubMed ID
41495659
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