Evidence map›Paper›PMID 39388235›Full record

ArticleeLife2024

Benchmarking reveals superiority of deep learning variant callers on bacterial nanopore sequence data.

Michael B Hall, Ryan R Wick, Louise M Judd, An N Nguyen, Eike J Steinig, Ouli Xie, Mark Davies, Torsten Seemann, Timothy P Stinear, Lachlan Coin

Abstract read
In one paragraph

Article in eLife, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers.

0numbers the graph read from it
0cells of the map it votes in
56citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

56 citing papers in PubMed.

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  5. A Complete Telomere-To-Telomere Assembly ofEvolutionary applications · 2026
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Michael B HallDepartment of Microbiology and Immunology, The University of Melbourne, at the Peter Doherty Institute for Infection and Immunity, Melbourne, Australia.ORCID https://orcid.org/0000-0003-3683-6208
Ryan R WickDepartment of Microbiology and Immunology, The University of Melbourne, at the Peter Doherty Institute for Infection and Immunity, Melbourne, Australia.ORCID https://orcid.org/0000-0001-8349-0778
Louise M JuddDepartment of Microbiology and Immunology, The University of Melbourne, at the Peter Doherty Institute for Infection and Immunity, Melbourne, Australia.ORCID https://orcid.org/0000-0003-3613-4839
An N NguyenDepartment of Microbiology and Immunology, The University of Melbourne, at the Peter Doherty Institute for Infection and Immunity, Melbourne, Australia.ORCID https://orcid.org/0000-0003-4893-6636
Eike J SteinigDepartment of Microbiology and Immunology, The University of Melbourne, at the Peter Doherty Institute for Infection and Immunity, Melbourne, Australia.
Ouli XieDepartment of Infectious Diseases, The University of Melbourne, at the Peter Doherty Institute for Infection and Immunity, Melbourne, Australia.ORCID https://orcid.org/0000-0002-5032-1932
Mark DaviesDepartment of Microbiology and Immunology, The University of Melbourne, at the Peter Doherty Institute for Infection and Immunity, Melbourne, Australia.
Torsten SeemannDepartment of Microbiology and Immunology, The University of Melbourne, at the Peter Doherty Institute for Infection and Immunity, Melbourne, Australia.
Timothy P Stinear *Department of Microbiology and Immunology, The University of Melbourne, at the Peter Doherty Institute for Infection and Immunity, Melbourne, Australia.ORCID https://orcid.org/0000-0003-0150-123X
Lachlan Coin *Department of Microbiology and Immunology, The University of Melbourne, at the Peter Doherty Institute for Infection and Immunity, Melbourne, Australia.ORCID https://orcid.org/0000-0002-4300-455X

Funding

National Health and Medical Research Council FSPGN000045
6 · The paper itself

Abstract

Variant calling is fundamental in bacterial genomics, underpinning the identification of disease transmission clusters, the construction of phylogenetic trees, and antimicrobial resistance detection. This study presents a comprehensive benchmarking of variant calling accuracy in bacterial genomes using Oxford Nanopore Technologies (ONT) sequencing data. We evaluated three ONT basecalling models and both simplex (single-strand) and duplex (dual-strand) read types across 14 diverse bacterial species. Our findings reveal that deep learning-based variant callers, particularly Clair3 and DeepVariant, significantly outperform traditional methods and even exceed the accuracy of Illumina sequencing, especially when applied to ONT's super-high accuracy model. ONT's superior performance is attributed to its ability to overcome Illumina's errors, which often arise from difficulties in aligning reads in repetitive and variant-dense genomic regions. Moreover, the use of high-performing variant callers with ONT's super-high accuracy data mitigates ONT's traditional errors in homopolymers. We also investigated the impact of read depth on variant calling, demonstrating that 10× depth of ONT super-accuracy data can achieve precision and recall comparable to, or better than, full-depth Illumina sequencing. These results underscore the potential of ONT sequencing, combined with advanced variant calling algorithms, to replace traditional short-read sequencing methods in bacterial genomics, particularly in resource-limited settings.

Indexed as

BacteriaBenchmarkingDeep LearningGenome, BacterialNanopore SequencingGenetic VariationGenomicsHigh-Throughput Nucleotide SequencingNanoporesbacteriabenchmarkbioinformaticsC. jejunicomputational biologydeep learningE. coliinfectious diseaseK. pneumoniaeL. monocytogenesmicrobiologyM. tuberculosisnanoporeS. aureusS. entericaS. pyogenessystems biologyvariant calling

Identifiers

PMID39388235
PMCPMC11466455

What OpenQuestion holds

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LicenceCC BY
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.