Next generation sequencing of SARS-CoV-2 genomes: challenges, applications and opportunities

Author:

Chiara Matteo1,D’Erchia Anna Maria2,Gissi Carmela2,Manzari Caterina3,Parisi Antonio4,Resta Nicoletta5,Zambelli Federico1,Picardi Ernesto6ORCID,Pavesi Giulio7,Horner David S1,Pesole Graziano2ORCID

Affiliation:

1. molecular biology and bioinformatics at the University of Milan

2. 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

3. Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies of the National Research Council in Bari

4. Genetic and Molecular Epidemiology Laboratory at the Experimental Zooprophylactic Institute of Apulia and Basilicata

5. Medical Genetics at the University of Bari. She heads the Laboratory Unit of Medical Genetics and the School of Specialization in Medical Genetics

6. molecular biology and bioinformatics at the University of Bari and research associate at the Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies of the National Research Council in Bari

7. Associate Professor of bioinformatics at the University of Milan (Italy)

Abstract

AbstractVarious 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.

Funder

Elixir-IIB

ELIXIR Converge

EOSC-Pillar

Consiglio Nazionale delle Ricerche, H2020 projects EOSC-Life

Italian Ministero dell’Università e Ricerca

Publisher

Oxford University Press (OUP)

Subject

Molecular Biology,Information Systems

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