Kastor: a reference-based comparative approach for assessment and correction of gene-fragmenting errors in long-read assemblies of small genomes

Long read sequencing technologies provide an efficient approach to generating highly contiguous and informative assemblies. However, higher relative error rates can introduce frameshifts and premature stop codons that pseudogenize genes, hindering downstream analyses. We developed a software tool that detects gene-fragmenting errors in draft assemblies of small genomes through comparison with a curated set of reference genome sequences and raw read information. In our presented example, detected errors represent less than 0.05% of the genome, but when corrected reduced the rate of pseudogenes from 23.3 to 5.6% in example long read assemblies, comparable to the rate of pseudogenes in short read assemblies. We demonstrate that this software can detect assembly errors in long read assemblies generated from small genomes and correct them to de-fragment genes.

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Publication Details

Journal
BMC Genomics
Published
2025-04-18
DOI
https://doi.org/10.1186/s12864-025-11569-y
Citations
1
Primary Topic
Genomics and Phylogenetic Studies
Type
article
Field-Weighted Citation Impact
0.81

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article

Kastor: a reference-based comparative approach for assessment and correction of gene-fragmenting errors in long-read assemblies of small genomes

Brendan J. McConkey, Janet S. H. Lorv
1 citations
BMC Genomics
Genomics and Phylogenetic Studies
0.81
article

Kastor: a reference-based comparative approach for assessment and correction of gene-fragmenting errors in long-read assemblies of small genomes

Brendan J. McConkey, Janet S. H. Lorv
article en
1 citations

Abstract

Long read sequencing technologies provide an efficient approach to generating highly contiguous and informative assemblies. However, higher relative error rates can introduce frameshifts and premature stop codons that pseudogenize genes, hindering downstream analyses. We developed a software tool that detects gene-fragmenting errors in draft assemblies of small genomes through comparison with a curated set of reference genome sequences and raw read information. In our presented example, detected errors represent less than 0.05% of the genome, but when corrected reduced the rate of pseudogenes from 23.3 to 5.6% in example long read assemblies, comparable to the rate of pseudogenes in short read assemblies. We demonstrate that this software can detect assembly errors in long read assemblies generated from small genomes and correct them to de-fragment genes.

BMC GenomicsVol. 26(1)
University of Waterloo (CA)
Natural Sciences and Engineering Research Council of Canada
Openalex Percentile: Top 29%
Genomics and Phylogenetic Studies
0.81
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Kastor: a reference-based comparative approach for assessment and correction of gene-fragmenting errors in long-read assemblies of small genomes — Brendan J. McConkey, Janet S. H. Lorv · BMC Genomics (2025) | TGRS Research Map | TGRS