molecular biology and bioinformatics at the University of Milan.
molecular biology at the University of Bari and research associate at the Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies of the National Research Council in Bari.
Brief Bioinform. 2021 Mar 22;22(2):616-630. doi: 10.1093/bib/bbaa297.
Various next generation sequencing (NGS) based strategies have been successfully used in the recent past for tracing origins and understanding the evolution of infectious agents, investigating the spread and transmission chains of outbreaks, as well as facilitating the development of effective and rapid molecular diagnostic tests and contributing to the hunt for treatments and vaccines. The ongoing COVID-19 pandemic poses one of the greatest global threats in modern history and has already caused severe social and economic costs. The development of efficient and rapid sequencing methods to reconstruct the genomic sequence of SARS-CoV-2, the etiological agent of COVID-19, has been fundamental for the design of diagnostic molecular tests and to devise effective measures and strategies to mitigate the diffusion of the pandemic. Diverse approaches and sequencing methods can, as testified by the number of available sequences, be applied to SARS-CoV-2 genomes. However, each technology and sequencing approach has its own advantages and limitations. In the current review, we will provide a brief, but hopefully comprehensive, account of currently available platforms and methodological approaches for the sequencing of SARS-CoV-2 genomes. We also present an outline of current repositories and databases that provide access to SARS-CoV-2 genomic data and associated metadata. Finally, we offer general advice and guidelines for the appropriate sharing and deposition of SARS-CoV-2 data and metadata, and suggest that more efficient and standardized integration of current and future SARS-CoV-2-related data would greatly facilitate the struggle against this new pathogen. We hope that our 'vademecum' for the production and handling of SARS-CoV-2-related sequencing data, will contribute to this objective.
各种基于下一代测序(NGS)的策略在过去的一段时间里已经成功地被用于追踪传染病病原体的起源和进化,研究疫情的传播和传播链,以及促进有效的快速分子诊断测试的开发,并有助于寻找治疗方法和疫苗。目前的 COVID-19 大流行是现代历史上最大的全球威胁之一,已经造成了严重的社会和经济成本。开发高效快速的测序方法来重建 COVID-19 的病原体 SARS-CoV-2 的基因组序列,对于设计诊断性分子测试以及制定有效措施和策略来减轻疫情的扩散至关重要。不同的方法和测序方法,正如可用序列的数量所证明的那样,可以应用于 SARS-CoV-2 基因组。然而,每种技术和测序方法都有其自身的优势和局限性。在当前的综述中,我们将简要但希望全面地介绍目前用于 SARS-CoV-2 基因组测序的可用平台和方法学方法。我们还介绍了当前提供 SARS-CoV-2 基因组数据和相关元数据访问权限的存储库和数据库。最后,我们提供了关于 SARS-CoV-2 数据和元数据的适当共享和存储的一般建议和指南,并建议更有效地整合当前和未来与 SARS-CoV-2 相关的数据,将极大地促进与这种新病原体的斗争。我们希望我们的 SARS-CoV-2 相关测序数据生产和处理的“指南”将有助于实现这一目标。