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Pilon: An Integrated Tool for Comprehensive Microbial Variant Detection and Genome Assembly Improvement

Open access
Walker, Bruce J., Abeel, Thomas, Shea, Terrance, Priest, Margaret, Abouelliel, Amr, Sakthikumar, Sharadha, Cuomo, Christina A., Zeng, Qiandong, Wortman, Jennifer, Young, Sarah K., Earl, Ashlee M.·2014·PLoS ONE

Abstract

Advances in modern sequencing technologies allow us to generate sufficient data to analyze hundreds of bacterial genomes from a single machine in a single day. This potential for sequencing massive numbers of genomes calls for fully automated methods to produce high-quality assemblies and variant calls. We introduce Pilon, a fully automated, all-in-one tool for correcting draft assemblies and calling sequence variants of multiple sizes, including very large insertions and deletions. Pilon works with many types of sequence data, but is particularly strong when supplied with paired end data from two Illumina libraries with small e.g., 180 bp and large e.g., 3-5 Kb inserts. Pilon significantly improves draft genome assemblies by correcting bases, fixing mis-assemblies and filling gaps. For both haploid and diploid genomes, Pilon produces more contiguous genomes with fewer errors, enabling identification of more biologically relevant genes. Furthermore, Pilon identifies small variants with high accuracy as compared to state-of-the-art tools and is unique in its ability to accurately identify large sequence variants including duplications and resolve large insertions. Pilon is being used to improve the assemblies of thousands of new genomes and to identify variants from thousands of clinically relevant bacterial strains. Pilon is freely available as open source software.

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Metadata

Authors
Walker, B. J., Abeel, T., Shea, T., Priest, M., Abouelliel, A., Sakthikumar, S., Cuomo, C. A., Zeng, Q., Wortman, J., Young, S. K., & Earl, A. M.
Venue
PLoS ONE
Published
2014-11-19
Volume
9
Issue
11
Pages
e112963
ISSN
1932-6203 (ISSN-L)
OpenAlex
W1982855075
Cited by
9,197
References
5
FWCI
33.71
Type
journal article
Language
en
Open access
gold

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CoChat. (2026). Citation check: Pilon: An Integrated Tool for Comprehensive Microbial Variant Detection and Genome Assembly Improvement. https://app.cochat.ai/papers/10.1371/journal.pone.0112963
The paper
Walker, B. J., Abeel, T., Shea, T., Priest, M., Abouelliel, A., Sakthikumar, S., Cuomo, C. A., Zeng, Q., Wortman, J., Young, S. K., & Earl, A. M. (2014). Pilon: An Integrated Tool for Comprehensive Microbial Variant Detection and Genome Assembly Improvement. PLoS ONE. https://doi.org/10.1371/journal.pone.0112963

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