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The genome polishing tool POLCA makes fast and accurate corrections in genome assemblies

The introduction of third-generation DNA sequencing technologies in recent years has allowed scientists to generate dramatically longer sequence reads, which when used in whole-genome sequencing projects have yielded better repeat resolution and far more contiguous genome assemblies. While the promi...

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Autores principales: Zimin, Aleksey V., Salzberg, Steven L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7347232/
https://www.ncbi.nlm.nih.gov/pubmed/32589667
http://dx.doi.org/10.1371/journal.pcbi.1007981
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author Zimin, Aleksey V.
Salzberg, Steven L.
author_facet Zimin, Aleksey V.
Salzberg, Steven L.
author_sort Zimin, Aleksey V.
collection PubMed
description The introduction of third-generation DNA sequencing technologies in recent years has allowed scientists to generate dramatically longer sequence reads, which when used in whole-genome sequencing projects have yielded better repeat resolution and far more contiguous genome assemblies. While the promise of better contiguity has held true, the relatively high error rate of long reads, averaging 8–15%, has made it challenging to generate a highly accurate final sequence. Current long-read sequencing technologies display a tendency toward systematic errors, in particular in homopolymer regions, which present additional challenges. A cost-effective strategy to generate highly contiguous assemblies with a very low overall error rate is to combine long reads with low-cost short-read data, which currently have an error rate below 0.5%. This hybrid strategy can be pursued either by incorporating the short-read data into the early phase of assembly, during the read correction step, or by using short reads to “polish” the consensus built from long reads. In this report, we present the assembly polishing tool POLCA (POLishing by Calling Alternatives) and compare its performance with two other popular polishing programs, Pilon and Racon. We show that on simulated data POLCA is more accurate than Pilon, and comparable in accuracy to Racon. On real data, all three programs show similar performance, but POLCA is consistently much faster than either of the other polishing programs.
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spelling pubmed-73472322020-07-20 The genome polishing tool POLCA makes fast and accurate corrections in genome assemblies Zimin, Aleksey V. Salzberg, Steven L. PLoS Comput Biol Research Article The introduction of third-generation DNA sequencing technologies in recent years has allowed scientists to generate dramatically longer sequence reads, which when used in whole-genome sequencing projects have yielded better repeat resolution and far more contiguous genome assemblies. While the promise of better contiguity has held true, the relatively high error rate of long reads, averaging 8–15%, has made it challenging to generate a highly accurate final sequence. Current long-read sequencing technologies display a tendency toward systematic errors, in particular in homopolymer regions, which present additional challenges. A cost-effective strategy to generate highly contiguous assemblies with a very low overall error rate is to combine long reads with low-cost short-read data, which currently have an error rate below 0.5%. This hybrid strategy can be pursued either by incorporating the short-read data into the early phase of assembly, during the read correction step, or by using short reads to “polish” the consensus built from long reads. In this report, we present the assembly polishing tool POLCA (POLishing by Calling Alternatives) and compare its performance with two other popular polishing programs, Pilon and Racon. We show that on simulated data POLCA is more accurate than Pilon, and comparable in accuracy to Racon. On real data, all three programs show similar performance, but POLCA is consistently much faster than either of the other polishing programs. Public Library of Science 2020-06-26 /pmc/articles/PMC7347232/ /pubmed/32589667 http://dx.doi.org/10.1371/journal.pcbi.1007981 Text en © 2020 Zimin, Salzberg http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Zimin, Aleksey V.
Salzberg, Steven L.
The genome polishing tool POLCA makes fast and accurate corrections in genome assemblies
title The genome polishing tool POLCA makes fast and accurate corrections in genome assemblies
title_full The genome polishing tool POLCA makes fast and accurate corrections in genome assemblies
title_fullStr The genome polishing tool POLCA makes fast and accurate corrections in genome assemblies
title_full_unstemmed The genome polishing tool POLCA makes fast and accurate corrections in genome assemblies
title_short The genome polishing tool POLCA makes fast and accurate corrections in genome assemblies
title_sort genome polishing tool polca makes fast and accurate corrections in genome assemblies
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7347232/
https://www.ncbi.nlm.nih.gov/pubmed/32589667
http://dx.doi.org/10.1371/journal.pcbi.1007981
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