Whole genome sequencing of Mycobacterium tuberculosis: current standards and open issues

Whole genome sequencing (WGS) of Mycobacterium tuberculosis has rapidly progressed from a research tool to a clinical application for the diagnosis and management of tuberculosis and in public health surveillance. This development has been facilitated by drastic drops in cost, advances in technology...

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Main Author: Walker, T
Format: Journal article
Published: Nature Research 2019
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author Walker, T
author_facet Walker, T
author_sort Walker, T
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description Whole genome sequencing (WGS) of Mycobacterium tuberculosis has rapidly progressed from a research tool to a clinical application for the diagnosis and management of tuberculosis and in public health surveillance. This development has been facilitated by drastic drops in cost, advances in technology and concerted efforts to translate sequencing data into actionable information. There is, however, a risk that, in the absence of a consensus and international standards, the widespread use of WGS technology may result in data and processes that lack harmonization, comparability and validation. In this Review, we outline the current landscape of WGS pipelines and applications, and set out best practices for M. tuberculosis WGS, including standards for bioinformatics pipelines, curated repositories of resistance-causing variants, phylogenetic analyses, quality control and standardized reporting.
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spelling oxford-uuid:1075c513-37b9-4023-b3db-5263f0448e0e2022-03-26T09:56:36ZWhole genome sequencing of Mycobacterium tuberculosis: current standards and open issuesJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:1075c513-37b9-4023-b3db-5263f0448e0eSymplectic Elements at OxfordNature Research2019Walker, TWhole genome sequencing (WGS) of Mycobacterium tuberculosis has rapidly progressed from a research tool to a clinical application for the diagnosis and management of tuberculosis and in public health surveillance. This development has been facilitated by drastic drops in cost, advances in technology and concerted efforts to translate sequencing data into actionable information. There is, however, a risk that, in the absence of a consensus and international standards, the widespread use of WGS technology may result in data and processes that lack harmonization, comparability and validation. In this Review, we outline the current landscape of WGS pipelines and applications, and set out best practices for M. tuberculosis WGS, including standards for bioinformatics pipelines, curated repositories of resistance-causing variants, phylogenetic analyses, quality control and standardized reporting.
spellingShingle Walker, T
Whole genome sequencing of Mycobacterium tuberculosis: current standards and open issues
title Whole genome sequencing of Mycobacterium tuberculosis: current standards and open issues
title_full Whole genome sequencing of Mycobacterium tuberculosis: current standards and open issues
title_fullStr Whole genome sequencing of Mycobacterium tuberculosis: current standards and open issues
title_full_unstemmed Whole genome sequencing of Mycobacterium tuberculosis: current standards and open issues
title_short Whole genome sequencing of Mycobacterium tuberculosis: current standards and open issues
title_sort whole genome sequencing of mycobacterium tuberculosis current standards and open issues
work_keys_str_mv AT walkert wholegenomesequencingofmycobacteriumtuberculosiscurrentstandardsandopenissues