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The Easy-to-Use SARS-CoV-2 Assembler for Genome Sequencing: Development Study
BACKGROUND: Early sequencing and quick analysis of the SARS-CoV-2 genome have contributed to the understanding of the dynamics of COVID-19 epidemics and in designing countermeasures at a global level. OBJECTIVE: Amplicon-based next-generation sequencing (NGS) methods are widely used to sequence the...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
JMIR Publications
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8924907/ https://www.ncbi.nlm.nih.gov/pubmed/35309411 http://dx.doi.org/10.2196/31536 |
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author | Rueca, Martina Giombini, Emanuela Messina, Francesco Bartolini, Barbara Di Caro, Antonino Capobianchi, Maria Rosaria Gruber, Cesare EM |
author_facet | Rueca, Martina Giombini, Emanuela Messina, Francesco Bartolini, Barbara Di Caro, Antonino Capobianchi, Maria Rosaria Gruber, Cesare EM |
author_sort | Rueca, Martina |
collection | PubMed |
description | BACKGROUND: Early sequencing and quick analysis of the SARS-CoV-2 genome have contributed to the understanding of the dynamics of COVID-19 epidemics and in designing countermeasures at a global level. OBJECTIVE: Amplicon-based next-generation sequencing (NGS) methods are widely used to sequence the SARS-CoV-2 genome and to identify novel variants that are emerging in rapid succession as well as harboring multiple deletions and amino acid–changing mutations. METHODS: To facilitate the analysis of NGS sequencing data obtained from amplicon-based sequencing methods, here, we propose an easy-to-use SARS-CoV-2 genome assembler: the Easy-to-use SARS-CoV-2 Assembler (ESCA) pipeline. RESULTS: Our results have shown that ESCA could perform high-quality genome assembly from Ion Torrent and Illumina raw data and help the user in easily correct low-coverage regions. Moreover, ESCA includes the possibility of comparing assembled genomes of multisample runs through an easy table format. CONCLUSIONS: In conclusion, ESCA automatically furnished a variant table output file, fundamental to rapidly recognizing variants of interest. Our pipeline could be a useful method for obtaining a complete, rapid, and accurate analysis even with minimal knowledge in bioinformatics. |
format | Online Article Text |
id | pubmed-8924907 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | JMIR Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-89249072022-03-16 The Easy-to-Use SARS-CoV-2 Assembler for Genome Sequencing: Development Study Rueca, Martina Giombini, Emanuela Messina, Francesco Bartolini, Barbara Di Caro, Antonino Capobianchi, Maria Rosaria Gruber, Cesare EM JMIR Bioinform Biotech Original Paper BACKGROUND: Early sequencing and quick analysis of the SARS-CoV-2 genome have contributed to the understanding of the dynamics of COVID-19 epidemics and in designing countermeasures at a global level. OBJECTIVE: Amplicon-based next-generation sequencing (NGS) methods are widely used to sequence the SARS-CoV-2 genome and to identify novel variants that are emerging in rapid succession as well as harboring multiple deletions and amino acid–changing mutations. METHODS: To facilitate the analysis of NGS sequencing data obtained from amplicon-based sequencing methods, here, we propose an easy-to-use SARS-CoV-2 genome assembler: the Easy-to-use SARS-CoV-2 Assembler (ESCA) pipeline. RESULTS: Our results have shown that ESCA could perform high-quality genome assembly from Ion Torrent and Illumina raw data and help the user in easily correct low-coverage regions. Moreover, ESCA includes the possibility of comparing assembled genomes of multisample runs through an easy table format. CONCLUSIONS: In conclusion, ESCA automatically furnished a variant table output file, fundamental to rapidly recognizing variants of interest. Our pipeline could be a useful method for obtaining a complete, rapid, and accurate analysis even with minimal knowledge in bioinformatics. JMIR Publications 2022-03-14 /pmc/articles/PMC8924907/ /pubmed/35309411 http://dx.doi.org/10.2196/31536 Text en ©Martina Rueca, Emanuela Giombini, Francesco Messina, Barbara Bartolini, Antonino Di Caro, Maria Rosaria Capobianchi, Cesare EM Gruber. Originally published in JMIR Bioinformatics and Biotechnology (https://bioinform.jmir.org), 14.03.2022. https://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/ (https://creativecommons.org/licenses/by/4.0/) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work, first published in JMIR Bioinformatics and Biotechnology, is properly cited. The complete bibliographic information, a link to the original publication on https://bioinform.jmir.org/, as well as this copyright and license information must be included. |
spellingShingle | Original Paper Rueca, Martina Giombini, Emanuela Messina, Francesco Bartolini, Barbara Di Caro, Antonino Capobianchi, Maria Rosaria Gruber, Cesare EM The Easy-to-Use SARS-CoV-2 Assembler for Genome Sequencing: Development Study |
title | The Easy-to-Use SARS-CoV-2 Assembler for Genome Sequencing: Development Study |
title_full | The Easy-to-Use SARS-CoV-2 Assembler for Genome Sequencing: Development Study |
title_fullStr | The Easy-to-Use SARS-CoV-2 Assembler for Genome Sequencing: Development Study |
title_full_unstemmed | The Easy-to-Use SARS-CoV-2 Assembler for Genome Sequencing: Development Study |
title_short | The Easy-to-Use SARS-CoV-2 Assembler for Genome Sequencing: Development Study |
title_sort | easy-to-use sars-cov-2 assembler for genome sequencing: development study |
topic | Original Paper |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8924907/ https://www.ncbi.nlm.nih.gov/pubmed/35309411 http://dx.doi.org/10.2196/31536 |
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