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Advancing genomic epidemiology by addressing the bioinformatics bottleneck: Challenges, design principles, and a Swiss example

The SARS-CoV-2 pandemic led to a huge increase in global pathogen genome sequencing efforts, and the resulting data are becoming increasingly important to detect variants of concern, monitor outbreaks, and quantify transmission dynamics. However, this rapid up-scaling in data generation brought with...

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Autores principales: Chen, Chaoran, Nadeau, Sarah, Topolsky, Ivan, Beerenwinkel, Niko, Stadler, Tanja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Author(s). Published by Elsevier B.V. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9107180/
https://www.ncbi.nlm.nih.gov/pubmed/35605437
http://dx.doi.org/10.1016/j.epidem.2022.100576
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author Chen, Chaoran
Nadeau, Sarah
Topolsky, Ivan
Beerenwinkel, Niko
Stadler, Tanja
author_facet Chen, Chaoran
Nadeau, Sarah
Topolsky, Ivan
Beerenwinkel, Niko
Stadler, Tanja
author_sort Chen, Chaoran
collection PubMed
description The SARS-CoV-2 pandemic led to a huge increase in global pathogen genome sequencing efforts, and the resulting data are becoming increasingly important to detect variants of concern, monitor outbreaks, and quantify transmission dynamics. However, this rapid up-scaling in data generation brought with it many IT infrastructure challenges. In this paper, we report about developing an improved system for genomic epidemiology. We (i) highlight key challenges that were exacerbated by the pandemic situation, (ii) provide data infrastructure design principles to address them, and (iii) give an implementation example developed by the Swiss SARS-CoV-2 Sequencing Consortium (S3C) in response to the COVID-19 pandemic. Finally, we discuss remaining challenges to data infrastructure for genomic epidemiology. Improving these infrastructures will help better detect, monitor, and respond to future public health threats.
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spelling pubmed-91071802022-05-16 Advancing genomic epidemiology by addressing the bioinformatics bottleneck: Challenges, design principles, and a Swiss example Chen, Chaoran Nadeau, Sarah Topolsky, Ivan Beerenwinkel, Niko Stadler, Tanja Epidemics Article The SARS-CoV-2 pandemic led to a huge increase in global pathogen genome sequencing efforts, and the resulting data are becoming increasingly important to detect variants of concern, monitor outbreaks, and quantify transmission dynamics. However, this rapid up-scaling in data generation brought with it many IT infrastructure challenges. In this paper, we report about developing an improved system for genomic epidemiology. We (i) highlight key challenges that were exacerbated by the pandemic situation, (ii) provide data infrastructure design principles to address them, and (iii) give an implementation example developed by the Swiss SARS-CoV-2 Sequencing Consortium (S3C) in response to the COVID-19 pandemic. Finally, we discuss remaining challenges to data infrastructure for genomic epidemiology. Improving these infrastructures will help better detect, monitor, and respond to future public health threats. The Author(s). Published by Elsevier B.V. 2022-06 2022-05-14 /pmc/articles/PMC9107180/ /pubmed/35605437 http://dx.doi.org/10.1016/j.epidem.2022.100576 Text en © 2022 The Author(s) Since January 2020 Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on the novel coronavirus COVID-19. The COVID-19 resource centre is hosted on Elsevier Connect, the company's public news and information website. Elsevier hereby grants permission to make all its COVID-19-related research that is available on the COVID-19 resource centre - including this research content - immediately available in PubMed Central and other publicly funded repositories, such as the WHO COVID database with rights for unrestricted research re-use and analyses in any form or by any means with acknowledgement of the original source. These permissions are granted for free by Elsevier for as long as the COVID-19 resource centre remains active.
spellingShingle Article
Chen, Chaoran
Nadeau, Sarah
Topolsky, Ivan
Beerenwinkel, Niko
Stadler, Tanja
Advancing genomic epidemiology by addressing the bioinformatics bottleneck: Challenges, design principles, and a Swiss example
title Advancing genomic epidemiology by addressing the bioinformatics bottleneck: Challenges, design principles, and a Swiss example
title_full Advancing genomic epidemiology by addressing the bioinformatics bottleneck: Challenges, design principles, and a Swiss example
title_fullStr Advancing genomic epidemiology by addressing the bioinformatics bottleneck: Challenges, design principles, and a Swiss example
title_full_unstemmed Advancing genomic epidemiology by addressing the bioinformatics bottleneck: Challenges, design principles, and a Swiss example
title_short Advancing genomic epidemiology by addressing the bioinformatics bottleneck: Challenges, design principles, and a Swiss example
title_sort advancing genomic epidemiology by addressing the bioinformatics bottleneck: challenges, design principles, and a swiss example
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9107180/
https://www.ncbi.nlm.nih.gov/pubmed/35605437
http://dx.doi.org/10.1016/j.epidem.2022.100576
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