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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...

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Autores principales: Rueca, Martina, Giombini, Emanuela, Messina, Francesco, Bartolini, Barbara, Di Caro, Antonino, Capobianchi, Maria Rosaria, Gruber, Cesare EM
Formato: Online Artículo Texto
Lenguaje:English
Publicado: JMIR Publications 2022
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.
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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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