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TandemTools: mapping long reads and assessing/improving assembly quality in extra-long tandem repeats

MOTIVATION: Extra-long tandem repeats (ETRs) are widespread in eukaryotic genomes and play an important role in fundamental cellular processes, such as chromosome segregation. Although emerging long-read technologies have enabled ETR assemblies, the accuracy of such assemblies is difficult to evalua...

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Autores principales: Mikheenko, Alla, Bzikadze, Andrey V, Gurevich, Alexey, Miga, Karen H, Pevzner, Pavel A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7355294/
https://www.ncbi.nlm.nih.gov/pubmed/32657355
http://dx.doi.org/10.1093/bioinformatics/btaa440
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author Mikheenko, Alla
Bzikadze, Andrey V
Gurevich, Alexey
Miga, Karen H
Pevzner, Pavel A
author_facet Mikheenko, Alla
Bzikadze, Andrey V
Gurevich, Alexey
Miga, Karen H
Pevzner, Pavel A
author_sort Mikheenko, Alla
collection PubMed
description MOTIVATION: Extra-long tandem repeats (ETRs) are widespread in eukaryotic genomes and play an important role in fundamental cellular processes, such as chromosome segregation. Although emerging long-read technologies have enabled ETR assemblies, the accuracy of such assemblies is difficult to evaluate since there are no tools for their quality assessment. Moreover, since the mapping of error-prone reads to ETRs remains an open problem, it is not clear how to polish draft ETR assemblies. RESULTS: To address these problems, we developed the TandemTools software that includes the TandemMapper tool for mapping reads to ETRs and the TandemQUAST tool for polishing ETR assemblies and their quality assessment. We demonstrate that TandemTools not only reveals errors in ETR assemblies but also improves the recently generated assemblies of human centromeres. AVAILABILITY AND IMPLEMENTATION: https://github.com/ablab/TandemTools. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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spelling pubmed-73552942020-07-16 TandemTools: mapping long reads and assessing/improving assembly quality in extra-long tandem repeats Mikheenko, Alla Bzikadze, Andrey V Gurevich, Alexey Miga, Karen H Pevzner, Pavel A Bioinformatics Comparative and Functional Genomics MOTIVATION: Extra-long tandem repeats (ETRs) are widespread in eukaryotic genomes and play an important role in fundamental cellular processes, such as chromosome segregation. Although emerging long-read technologies have enabled ETR assemblies, the accuracy of such assemblies is difficult to evaluate since there are no tools for their quality assessment. Moreover, since the mapping of error-prone reads to ETRs remains an open problem, it is not clear how to polish draft ETR assemblies. RESULTS: To address these problems, we developed the TandemTools software that includes the TandemMapper tool for mapping reads to ETRs and the TandemQUAST tool for polishing ETR assemblies and their quality assessment. We demonstrate that TandemTools not only reveals errors in ETR assemblies but also improves the recently generated assemblies of human centromeres. AVAILABILITY AND IMPLEMENTATION: https://github.com/ablab/TandemTools. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Oxford University Press 2020-07 2020-07-13 /pmc/articles/PMC7355294/ /pubmed/32657355 http://dx.doi.org/10.1093/bioinformatics/btaa440 Text en © The Author(s) 2020. Published by Oxford University Press. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Comparative and Functional Genomics
Mikheenko, Alla
Bzikadze, Andrey V
Gurevich, Alexey
Miga, Karen H
Pevzner, Pavel A
TandemTools: mapping long reads and assessing/improving assembly quality in extra-long tandem repeats
title TandemTools: mapping long reads and assessing/improving assembly quality in extra-long tandem repeats
title_full TandemTools: mapping long reads and assessing/improving assembly quality in extra-long tandem repeats
title_fullStr TandemTools: mapping long reads and assessing/improving assembly quality in extra-long tandem repeats
title_full_unstemmed TandemTools: mapping long reads and assessing/improving assembly quality in extra-long tandem repeats
title_short TandemTools: mapping long reads and assessing/improving assembly quality in extra-long tandem repeats
title_sort tandemtools: mapping long reads and assessing/improving assembly quality in extra-long tandem repeats
topic Comparative and Functional Genomics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7355294/
https://www.ncbi.nlm.nih.gov/pubmed/32657355
http://dx.doi.org/10.1093/bioinformatics/btaa440
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