易于使用的SARS-CoV-2基因组测序组装器:开发研究

JMIR bioinformatics and biotechnology Pub Date : 2022-03-14 eCollection Date: 2022-01-01 DOI:10.2196/31536
Martina Rueca, Emanuela Giombini, Francesco Messina, Barbara Bartolini, Antonino Di Caro, Maria Rosaria Capobianchi, Cesare Em Gruber
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引用次数: 5

摘要

背景:SARS-CoV-2基因组的早期测序和快速分析有助于了解COVID-19流行动态和在全球层面制定对策。目的:基于扩增子的新一代测序(NGS)方法被广泛用于对SARS-CoV-2基因组进行测序,并鉴定快速连续出现的新变体,以及包含多个缺失和氨基酸改变突变的新变体。方法:为了便于分析基于扩增子测序方法获得的NGS测序数据,我们提出了一种易于使用的SARS-CoV-2基因组组装器:easy- use SARS-CoV-2 assembler (ESCA)管道。结果:我们的研究结果表明,ESCA可以从Ion Torrent和Illumina原始数据中进行高质量的基因组组装,并帮助用户轻松纠正低覆盖区域。此外,ESCA包括通过一个简单的表格格式比较多样本运行的组装基因组的可能性。结论:总之,ESCA自动提供了一个变体表输出文件,这是快速识别感兴趣的变体的基础。我们的管道可以成为一种有用的方法,即使在生物信息学方面的知识很少,也可以获得完整、快速和准确的分析。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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

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

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 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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