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

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

  • Autores: Alves A, Coll F, Guerra-Assunção JA, Hill-Cawthorne G, Mallard K, McNerney R, Miranda A, Nair M, Preston MD, Viveiros M, Warry A
  • Ano de Publicação: 2015
  • Journal: Genome Medicine
  • Link: https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-015-0164-0

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.

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GHTM is a R&D Center that brings together researchers from IHMT with a track record in Tropical Medicine and International/Global Health. It aims at strengthening Portugal's role as a leading partner in the development and implementation of a global health research agenda. Our evidence-based interventions contribute to the promotion of equity in health and to improve the health of populations.

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