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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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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. |
format | Online Article Text |
id | pubmed-7355294 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
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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