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Rapid determination of anti-tuberculosis drug resistance from whole-genome sequences

dc.contributor.authorColl, Francesc
dc.contributor.authorMcNerney, Ruth
dc.contributor.authorPreston, Mark D.
dc.contributor.authorGuerra-Assunção, José Afonso
dc.contributor.authorWarry, Andrew
dc.contributor.authorHill-Cawthorne, Grant
dc.contributor.authorMallard, Kim
dc.contributor.authorNair, Mridul
dc.contributor.authorMiranda, Anabela
dc.contributor.authorAlves, Adriana
dc.contributor.authorPerdigão, João
dc.contributor.authorViveiros, Miguel
dc.contributor.authorPortugal, Isabel
dc.contributor.authorHasan, Zahra
dc.contributor.authorHasan, Rumina
dc.contributor.authorGlynn, Judith R.
dc.contributor.authorMartin, Nigel
dc.contributor.authorPain, Arnab
dc.contributor.authorClark, Taane G.
dc.date.accessioned2016-03-01T16:36:41Z
dc.date.available2016-03-01T16:36:41Z
dc.date.issued2015-05-27
dc.description.abstractMycobacterium tuberculosis drug resistance (DR) challenges effective tuberculosis disease control. Current molecular tests examine limited numbers of mutations, and although whole genome sequencing approaches could fully characterise DR, data complexity has restricted their clinical application. A library (1,325 mutations) predictive of DR for 15 anti-tuberculosis drugs was compiled and validated for 11 of them using genomic-phenotypic data from 792 strains. A rapid online 'TB-Profiler' tool was developed to report DR and strain-type profiles directly from raw sequences. Using our DR mutation library, in silico diagnostic accuracy was superior to some commercial diagnostics and alternative databases. The library will facilitate sequence-based drug-susceptibility testing.pt_PT
dc.description.sponsorshipBloomsbury Research Fund; Fundação para a Ciência e Tecnologia (grant number PTDC/SAU-ESA/71208/2006); King Abdullah University of Science and Technology (KAUST); Medical Research Council UK (grant number MR/K000551/1); Wellcome Trust (grant number 096249/Z/11/B)pt_PT
dc.identifier.citationGenome Med. 2015 May 27;7(1):51. doi: 10.1186/s13073-015-0164-0. eCollection 2015.pt_PT
dc.identifier.doi10.1186/s13073-015-0164-0pt_PT
dc.identifier.issn1756-994X
dc.identifier.urihttp://hdl.handle.net/10400.18/3554
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherBioMed Centralpt_PT
dc.relationMolecular epidemiology of Mycobacterium tuberculosis in Portugal: Implementing and analysing a database
dc.relation.publisherversionhttp://genomemedicine.biomedcentral.com/articles/10.1186/s13073-015-0164-0pt_PT
dc.subjectTuberculosispt_PT
dc.subjectDrug Resistancept_PT
dc.subjectWhole Genome Sequencespt_PT
dc.subjectInfecções Respiratóriaspt_PT
dc.titleRapid determination of anti-tuberculosis drug resistance from whole-genome sequencespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleMolecular epidemiology of Mycobacterium tuberculosis in Portugal: Implementing and analysing a database
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FSAU-ESA%2F71208%2F2006/PT
oaire.citation.startPage51pt_PT
oaire.citation.titleGenome Medicinept_PT
oaire.citation.volume7(1)pt_PT
oaire.fundingStream3599-PPCDT
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isProjectOfPublicationf6d89686-7d29-4526-add3-eb59d10b0d6d
relation.isProjectOfPublication.latestForDiscoveryf6d89686-7d29-4526-add3-eb59d10b0d6d

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