Optimizing the Illumina COVIDSeq laboratorial and bioinformatics pipeline on thousands of samples for SARS-CoV-2 Variants of Concern tracking.

BAM, Binary Alignment Map BED, Browser Extensible Data Bioinformatics workflow COVID mutations FDA, Food and Drug Administration HPC, High Performance Computing Illumina COVID-seq LIMS, Laboratory Information Management System NGS, Next Generation Sequencing Oncology Oncology Metagenomics RBD, Receptor-Binding Domain SARS-CoV-2 Variants of Concern SARS-CoV-2 genome SARS-CoV-2 mutation SARS-CoV-2, Severe Acute Respiratory Syndrome Coronavirus TAT, Turnaround Time VoC, Variants of Concern

Journal

Computational and structural biotechnology journal
ISSN: 2001-0370
Titre abrégé: Comput Struct Biotechnol J
Pays: Netherlands
ID NLM: 101585369

Informations de publication

Date de publication:
2022
Historique:
received: 22 02 2022
revised: 06 05 2022
accepted: 16 05 2022
pubmed: 26 5 2022
medline: 26 5 2022
entrez: 25 5 2022
Statut: ppublish

Résumé

The SARS-CoV-2 Variants of Concern tracking via Whole Genome Sequencing represents a pillar of public health measures for the containment of the pandemic. The ability to track down the lineage distribution on a local and global scale leads to a better understanding of immune escape and to adopting interventions to contain novel outbreaks. This scenario poses a challenge for NGS laboratories worldwide that are pressed to have both a faster turnaround time and a high-throughput processing of swabs for sequencing and analysis. In this study, we present an optimization of the Illumina COVID-seq protocol carried out on thousands of SARS-CoV-2 samples at the wet and dry level. We discuss the unique challenges related to processing hundreds of swabs per week such as the tradeoff between ultra-high sensitivity and negative contamination levels, cost efficiency and bioinformatics quality metrics.

Identifiants

pubmed: 35611117
doi: 10.1016/j.csbj.2022.05.033
pii: S2001-0370(22)00189-1
pmc: PMC9119164
doi:

Types de publication

Journal Article

Langues

eng

Pagination

2558-2563

Informations de copyright

© 2022 The Author(s).

Déclaration de conflit d'intérêts

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Références

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Auteurs

Sara Donzelli (S)

Oncogenomics and Epigenetics, IRCCS Regina Elena National Cancer Institute, Rome, Italy.

Ludovica Ciuffreda (L)

SAFU Unit, IRCCS Regina Elena National Cancer Institute, Rome, Italy.

Martina Pontone (M)

Microbiology and Virology Unit, IRCCS San Gallicano Dermatological Institute, Rome, Italy.

Martina Betti (M)

Biostatistics, Bioinformatics and Clinical Trial Center, IRCCS Regina Elena National Cancer Institute, Rome, Italy.

Alice Massacci (A)

Biostatistics, Bioinformatics and Clinical Trial Center, IRCCS Regina Elena National Cancer Institute, Rome, Italy.

Carla Mottini (C)

SAFU Unit, IRCCS Regina Elena National Cancer Institute, Rome, Italy.

Francesca De Nicola (F)

SAFU Unit, IRCCS Regina Elena National Cancer Institute, Rome, Italy.

Giulia Orlandi (G)

Scientific Direction, IRCCS San Gallicano Dermatological Institute, Rome, Italy.

Frauke Goeman (F)

SAFU Unit, IRCCS Regina Elena National Cancer Institute, Rome, Italy.

Eugenia Giuliani (E)

Scientific Direction, IRCCS San Gallicano Dermatological Institute, Rome, Italy.

Eleonora Sperandio (E)

Biostatistics, Bioinformatics and Clinical Trial Center, IRCCS Regina Elena National Cancer Institute, Rome, Italy.

Giulia Piaggio (G)

SAFU Unit, IRCCS Regina Elena National Cancer Institute, Rome, Italy.

Aldo Morrone (A)

Scientific Direction, IRCCS San Gallicano Dermatological Institute, Rome, Italy.

Gennaro Ciliberto (G)

Scientific Direction, IRCCS Regina Elena National Cancer Institute, Rome, Italy.

Maurizio Fanciulli (M)

SAFU Unit, IRCCS Regina Elena National Cancer Institute, Rome, Italy.

Giovanni Blandino (G)

Oncogenomics and Epigenetics, IRCCS Regina Elena National Cancer Institute, Rome, Italy.

Fulvia Pimpinelli (F)

Microbiology and Virology Unit, IRCCS San Gallicano Dermatological Institute, Rome, Italy.

Matteo Pallocca (M)

Biostatistics, Bioinformatics and Clinical Trial Center, IRCCS Regina Elena National Cancer Institute, Rome, Italy.

Classifications MeSH