CloseRead: a tool for assessing assembly errors in immunoglobulin loci applied to vertebrate long-read genome assemblies

Despite tremendous advances in long-read sequencing, some structurally complex and repeat-rich genomic regions remain challenging to assemble. Furthermore, we lack tools to assess local assembly quality, making it hard to identify problems and assess progress. Here we develop a new approach "CloseRead" for visualizing local assembly quality and diagnosing errors using multiple metrics. We apply CloseRead to evaluate how well immunoglobulin loci, paradigmatic cases of structurally complex regions, are assembled in 74 state-of-the-art vertebrate genomes. We then show that targeted, local re-assembly can correct the specific errors identified by CloseRead, highlighting the value of an iterative approach to genome assembly.

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Publication Details

Journal
Genome biology
Published
2025-05-20
DOI
https://doi.org/10.1186/s13059-025-03594-7
Citations
4
Primary Topic
Genomics and Phylogenetic Studies
Type
article
Field-Weighted Citation Impact
3.22

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article

CloseRead: a tool for assessing assembly errors in immunoglobulin loci applied to vertebrate long-read genome assemblies

Yana Safonova, Yixin Zhu, Corey T. Watson, Anton Bankevich et al.
4 citations
Genome biology
Genomics and Phylogenetic Studies
3.22
article

CloseRead: a tool for assessing assembly errors in immunoglobulin loci applied to vertebrate long-read genome assemblies

Yana Safonova, Yixin Zhu, Corey T. Watson, Anton Bankevich, Matt Pennell
article en
4 citations

Abstract

Despite tremendous advances in long-read sequencing, some structurally complex and repeat-rich genomic regions remain challenging to assemble. Furthermore, we lack tools to assess local assembly quality, making it hard to identify problems and assess progress. Here we develop a new approach "CloseRead" for visualizing local assembly quality and diagnosing errors using multiple metrics. We apply CloseRead to evaluate how well immunoglobulin loci, paradigmatic cases of structurally complex regions, are assembled in 74 state-of-the-art vertebrate genomes. We then show that targeted, local re-assembly can correct the specific errors identified by CloseRead, highlighting the value of an iterative approach to genome assembly.

Genome biologyVol. 26(1)
University of Southern California (US), University of Louisville (US), Cornell University (US)
University of Southern California, National Institutes of Health, National Institute of General Medical Sciences
Openalex Percentile: Top 8%
Genomics and Phylogenetic Studies
3.22
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