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Cernela, N.

Publications and source records attributed to Cernela, N..

2 recordsLinked to original sources

Standalone nanopore sequencing for foodborne pathogen surveillance: a large-scale evaluation and quality control framework

Whole-genome sequencing (WGS) is central to foodborne pathogen surveillance and cross-border outbreak detection. Long-read sequencing using Oxford Nanopore Technologies (ONT) promises rapid, complete, and cost-effective genome assemblies in a single workflow. However, the adoption of standalone ONT sequencing of native DNA has been slowed by concerns that DNA modifications can compromise per-base sequencing accuracy and downstream genotyping. In this study, we evaluated ONT-only sequencing performance across 294 genetically diverse isolates representing ten major foodborne pathogens. Using the SUP@v5.2 basecalling model at 50x coverage, 97.3% (286/294) of the ONT assemblies produced identical or near-identical cgMLST profiles ([≤]3 allelic differences) as Illumina-polished hybrid assemblies. Elevated error rates were observed in four Salmonella enterica serovar Kentucky and four Listeria monocytogenes isolates and were associated with the presence of specific DNA phosphorothioation or methylation systems. Re-basecalling the same dataset with the newly released HAC@v6.0 model revealed a different error profile: although 93.5% (275/294) of assemblies remained highly accurate, all 13 isolates carrying dnd (DNA phosphorothioation) or dpd (7-deazaguanine modification) systems, including isolates of S. enterica, Cronobacter sakazakii, and Vibrio parahaemolyticus, exhibited high error rates, suggesting that such atypical modifications were not adequately represented in the models training dataset. To enable rapid identification of unreliable assemblies, we developed alpaqa, a lightweight computational tool that detects systematic nanopore assembly errors without requiring supplemental short-read data or reference genomes. By identifying affected assemblies, alpaqa provides a quality safeguard for ONT-only workflows. Masking low-quality bases in assemblies flagged by alpaqa improved cgMLST accuracy, although this reduced the number of callable loci and therefore genotyping resolution. Our findings demonstrate that standalone ONT sequencing of native DNA is sufficiently accurate for routine foodborne pathogen surveillance when combined with appropriate quality control, supporting its use in harmonised genomic surveillance frameworks. Data summaryAll sequencing data generated in this study have been submitted to the NCBI Sequence Read Archive. Accession numbers for Illumina and ONT (SUP@v5.2) reads are listed in Supplementary Table S1. Raw pod5 files from error-prone isolates have been deposited in SquiDBase (SQB000021). Alpaqa is available at github.com/MBiggel/alpaqa/. An automated ONT assembly and quality control pipeline integrating alpaqa is available at github.com/MBiggel/boap/. Impact statementThis study demonstrates that standalone Oxford Nanopore sequencing of native DNA can achieve highly accurate genotyping for routine foodborne pathogen surveillance across diverse species. We show that the remaining inaccuracies are linked to specific DNA modification systems, including phosphorothioation and 7-deazaguanine modifications, which are identified here as previously unrecognised sources of systematic sequencing errors. To address this limitation, we introduce alpaqa, a reference-free method for detecting such error-prone assemblies, providing a practical quality-control framework for ONT-only workflows. Together, these results support the reliable use of nanopore sequencing in routine genomic surveillance.

genomics↗

Oxford Nanopore's 2024 sequencing technology for Listeria monocytogenes outbreak detection and source attribution: progress and clone-specific challenges

Whole genome sequencing is an essential cornerstone of pathogen surveillance and outbreak detection. Established sequencing technologies are currently challenged by Oxford Nanopore Technologies (ONT), which offers an accessible and cost-effective alternative enabling gap-free assemblies of chromosomes and plasmids. Limited accuracy has hindered its use for investigating pathogen transmission, but recent technology updates have brought significant improvements. To evaluate its readiness for outbreak detection, we selected 78 Listeria monocytogenes isolates from diverse lineages or known epidemiological clusters for sequencing with ONTs V14 Rapid Barcoding Kit and R10.4.1 flow cells. The most accurate of several tested workflows generated assemblies with a median of one error (SNP or indel) per assembly. For 66 isolates, cgMLST profiles from ONT-only assemblies were identical to those generated from Illumina data. Eight assemblies were of lower quality with more than 20 erroneous sites each, primarily caused by methylations at the GAAGAC motif (5'-GAAG6mAC-3 / 3'-GT4mCTTC-5'). This led to inaccurate clustering, failing to group isolates from a persistence-associated clone that carried the responsible restriction-modification system. Out of 50 methylation motifs detected among the 78 isolates, only the GAAGAC motif was linked to substantially increased error rates. Our study shows that most L. monocytogenes genomes assembled from ONT-only data are suitable for high-resolution genotyping, but further improvements of chemistries or basecallers are required for reliable routine use in outbreak and food safety investigations.

genomics↗