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InMut-finder: a software tool for insertion identification in mutagenesis using Nanopore long reads

BACKGROUND: Biological mutagens (such as transposon) with sequences inserted, play a crucial role to link observed phenotype and genotype in reverse genetic studies. For this reason, accurate and efficient software tools for identifying insertion sites based on the analysis of sequencing reads are d...

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Autores principales: Song, Rui, Wang, Ziyao, Wang, Hui, Zhang, Han, Wang, Xuemeng, Nguyen, Hanh, Holding, David, Yu, Bin, Clemente, Tom, Jia, Shangang, Zhang, Chi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8684674/
https://www.ncbi.nlm.nih.gov/pubmed/34923956
http://dx.doi.org/10.1186/s12864-021-08206-9
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author Song, Rui
Wang, Ziyao
Wang, Hui
Zhang, Han
Wang, Xuemeng
Nguyen, Hanh
Holding, David
Yu, Bin
Clemente, Tom
Jia, Shangang
Zhang, Chi
author_facet Song, Rui
Wang, Ziyao
Wang, Hui
Zhang, Han
Wang, Xuemeng
Nguyen, Hanh
Holding, David
Yu, Bin
Clemente, Tom
Jia, Shangang
Zhang, Chi
author_sort Song, Rui
collection PubMed
description BACKGROUND: Biological mutagens (such as transposon) with sequences inserted, play a crucial role to link observed phenotype and genotype in reverse genetic studies. For this reason, accurate and efficient software tools for identifying insertion sites based on the analysis of sequencing reads are desired. RESULTS: We developed a bioinformatics tool, a Finder, to identify genome-wide Insertions in Mutagenesis (named as “InMut-Finder”), based on target sequences and flanking sequences from long reads, such as Oxford Nanopore Sequencing. InMut-Finder succeeded in identify > 100 insertion sites in Medicago truncatula and soybean mutants based on sequencing reads of whole-genome DNA or enriched insertion-site DNA fragments. Insertion sites discovered by InMut-Finder were validated by PCR experiments. CONCLUSION: InMut-Finder is a comprehensive and powerful tool for automated insertion detection from Nanopore long reads. The simplicity, efficiency, and flexibility of InMut-Finder make it a valuable tool for functional genomics and forward and reverse genetics. InMut-Finder was implemented with Perl, R, and Shell scripts, which are independent of the OS. The source code and instructions can be accessed at https://github.com/jsg200830/InMut-Finder. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12864-021-08206-9.
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spelling pubmed-86846742021-12-20 InMut-finder: a software tool for insertion identification in mutagenesis using Nanopore long reads Song, Rui Wang, Ziyao Wang, Hui Zhang, Han Wang, Xuemeng Nguyen, Hanh Holding, David Yu, Bin Clemente, Tom Jia, Shangang Zhang, Chi BMC Genomics Software BACKGROUND: Biological mutagens (such as transposon) with sequences inserted, play a crucial role to link observed phenotype and genotype in reverse genetic studies. For this reason, accurate and efficient software tools for identifying insertion sites based on the analysis of sequencing reads are desired. RESULTS: We developed a bioinformatics tool, a Finder, to identify genome-wide Insertions in Mutagenesis (named as “InMut-Finder”), based on target sequences and flanking sequences from long reads, such as Oxford Nanopore Sequencing. InMut-Finder succeeded in identify > 100 insertion sites in Medicago truncatula and soybean mutants based on sequencing reads of whole-genome DNA or enriched insertion-site DNA fragments. Insertion sites discovered by InMut-Finder were validated by PCR experiments. CONCLUSION: InMut-Finder is a comprehensive and powerful tool for automated insertion detection from Nanopore long reads. The simplicity, efficiency, and flexibility of InMut-Finder make it a valuable tool for functional genomics and forward and reverse genetics. InMut-Finder was implemented with Perl, R, and Shell scripts, which are independent of the OS. The source code and instructions can be accessed at https://github.com/jsg200830/InMut-Finder. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12864-021-08206-9. BioMed Central 2021-12-19 /pmc/articles/PMC8684674/ /pubmed/34923956 http://dx.doi.org/10.1186/s12864-021-08206-9 Text en © The Author(s) 2021 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
Song, Rui
Wang, Ziyao
Wang, Hui
Zhang, Han
Wang, Xuemeng
Nguyen, Hanh
Holding, David
Yu, Bin
Clemente, Tom
Jia, Shangang
Zhang, Chi
InMut-finder: a software tool for insertion identification in mutagenesis using Nanopore long reads
title InMut-finder: a software tool for insertion identification in mutagenesis using Nanopore long reads
title_full InMut-finder: a software tool for insertion identification in mutagenesis using Nanopore long reads
title_fullStr InMut-finder: a software tool for insertion identification in mutagenesis using Nanopore long reads
title_full_unstemmed InMut-finder: a software tool for insertion identification in mutagenesis using Nanopore long reads
title_short InMut-finder: a software tool for insertion identification in mutagenesis using Nanopore long reads
title_sort inmut-finder: a software tool for insertion identification in mutagenesis using nanopore long reads
topic Software
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8684674/
https://www.ncbi.nlm.nih.gov/pubmed/34923956
http://dx.doi.org/10.1186/s12864-021-08206-9
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