Author(s):
Coll, Francesc ; McNerney, Ruth ; Preston, Mark D. ; Guerra-Assunção, José Afonso ; Warry, Andrew ; Hill-Cawthorne, Grant ; Mallard, Kim ; Nair, Mridul ; Miranda, Anabela ; Alves, Adriana ; Perdigão, João ; Viveiros, Miguel ; Portugal, Isabel ; Hasan, Zahra ; Hasan, Rumina ; Glynn, Judith R. ; Martin, Nigel ; Pain, Arnab ; Clark, Taane G.
Date: 2015
Origin: Repositório Institucional da UNL
Subject(s): Genetics(clinical); Genetics; Molecular Biology; Molecular Medicine; SDG 3 - Good Health and Well-being
Description
PMID: 26019726 WOS:000355073700001
Mycobacterium 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.
