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The Easy-to-Use SARS-CoV-2 Assembler for Genome Sequencing: Development Study.


ABSTRACT:

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.

SUBMITTER: Rueca M 

PROVIDER: S-EPMC8924907 | biostudies-literature | 2022 Jan-Dec

REPOSITORIES: biostudies-literature

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Publications

The Easy-to-Use SARS-CoV-2 Assembler for Genome Sequencing: Development Study.

Rueca Martina M   Giombini Emanuela E   Messina Francesco F   Bartolini Barbara B   Di Caro Antonino A   Capobianchi Maria Rosaria MR   Gruber Cesare Em CE  

JMIR bioinformatics and biotechnology 20220101 1


<h4>Background</h4>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.<h4>Objective</h4>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.<h4>Methods</h4>To facilit  ...[more]

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