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Accepted for/Published in: JMIR Bioinformatics and Biotechnology

Date Submitted: Jun 24, 2021
Date Accepted: Feb 5, 2022

The final, peer-reviewed published version of this preprint can be found here:

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

Rueca M, Giombini E, Messina F, Bartolini B, Di Caro A, Capobianchi MR, Gruber CEM

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

JMIR Bioinform Biotech 2022;3(1):e31536

DOI: 10.2196/31536

PMID: 35309411

PMCID: 8924907

ESCA pipeline: Easy-to-use SARS-CoV-2 genome Assembler

  • Martina Rueca; 
  • Emanuela Giombini; 
  • Francesco Messina; 
  • Barbara Bartolini; 
  • Antonino Di Caro; 
  • Maria Rosaria Capobianchi; 
  • Cesare E. M. Gruber

ABSTRACT

Background:

Early sequencing and quick analysis of SARS-CoV-2 genome are contributing to understand the dynamics of COVID19 epidemics and to design countermeasures at global level.

Objective:

Amplicon-based NGS methods are widely used to sequence the SARS-CoV-2 genome and to identify novel variants that are emerging in rapid succession, 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 ESCA pipeline.

Results:

Our results showed that ESCA could perform high quality genome assembly from IonTorrent and Illumina raw data, and help the user in easily correct low-coverage regions. Moreover, ESCA includes the possibility to compare assembled genomes of multi sample runs through an easy table format.

Conclusions:

In conclusion, ESCA make automatically a variant table output file, fundamental to recognize variants of interest, rapidly. Our pipeline could be a useful method to obtain a rapid, complete and correct analysis also with minimal skill in bioinformatics. The script and manuals are available on GitHub [https://github.com/cesaregruber/ESCA].


 Citation

Please cite as:

Rueca M, Giombini E, Messina F, Bartolini B, Di Caro A, Capobianchi MR, Gruber CEM

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

JMIR Bioinform Biotech 2022;3(1):e31536

DOI: 10.2196/31536

PMID: 35309411

PMCID: 8924907

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