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Software evaluation for de novo detection of transposons

Transposable elements (TEs) are major genomic components in most eukaryotic genomes and play an important role in genome evolution. However, despite their relevance the identification of TEs is not an easy task and a number of tools were developed to tackle this problem. To better understand how the...

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Autores principales: Rodriguez, Matias, Makałowski, Wojciech
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9047281/
https://www.ncbi.nlm.nih.gov/pubmed/35477485
http://dx.doi.org/10.1186/s13100-022-00266-2
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author Rodriguez, Matias
Makałowski, Wojciech
author_facet Rodriguez, Matias
Makałowski, Wojciech
author_sort Rodriguez, Matias
collection PubMed
description Transposable elements (TEs) are major genomic components in most eukaryotic genomes and play an important role in genome evolution. However, despite their relevance the identification of TEs is not an easy task and a number of tools were developed to tackle this problem. To better understand how they perform, we tested several widely used tools for de novo TE detection and compared their performance on both simulated data and well curated genomic sequences. As expected, tools that build TE-models performed better than k-mer counting ones, with RepeatModeler beating competitors in most datasets. However, there is a tendency for most tools to identify TE-regions in a fragmented manner and it is also frequent that small TEs or fragmented TEs are not detected. Consequently, the identification of TEs is still a challenging endeavor and it requires a significant manual curation by an experienced expert. The results will be helpful for identifying common issues associated with TE-annotation and for evaluating how comparable are the results obtained with different tools. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13100-022-00266-2.
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spelling pubmed-90472812022-04-29 Software evaluation for de novo detection of transposons Rodriguez, Matias Makałowski, Wojciech Mob DNA Software Transposable elements (TEs) are major genomic components in most eukaryotic genomes and play an important role in genome evolution. However, despite their relevance the identification of TEs is not an easy task and a number of tools were developed to tackle this problem. To better understand how they perform, we tested several widely used tools for de novo TE detection and compared their performance on both simulated data and well curated genomic sequences. As expected, tools that build TE-models performed better than k-mer counting ones, with RepeatModeler beating competitors in most datasets. However, there is a tendency for most tools to identify TE-regions in a fragmented manner and it is also frequent that small TEs or fragmented TEs are not detected. Consequently, the identification of TEs is still a challenging endeavor and it requires a significant manual curation by an experienced expert. The results will be helpful for identifying common issues associated with TE-annotation and for evaluating how comparable are the results obtained with different tools. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13100-022-00266-2. BioMed Central 2022-04-27 /pmc/articles/PMC9047281/ /pubmed/35477485 http://dx.doi.org/10.1186/s13100-022-00266-2 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Software
Rodriguez, Matias
Makałowski, Wojciech
Software evaluation for de novo detection of transposons
title Software evaluation for de novo detection of transposons
title_full Software evaluation for de novo detection of transposons
title_fullStr Software evaluation for de novo detection of transposons
title_full_unstemmed Software evaluation for de novo detection of transposons
title_short Software evaluation for de novo detection of transposons
title_sort software evaluation for de novo detection of transposons
topic Software
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9047281/
https://www.ncbi.nlm.nih.gov/pubmed/35477485
http://dx.doi.org/10.1186/s13100-022-00266-2
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