Detecting foldback artifacts in long-reads
Year: 2026
Type: other
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.
Source: Figshare
Authors: Heinz, Jakob M., Meyerson, Matthew, Li, Heng
Institutions: Broad Institute, Harvard University, Dana-Farber Cancer Institute
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W7128094742
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