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September 15, 2026Genome MedicineOpen Access

Updated TB-Profiler: enhanced genotypic antimicrobial resistance prediction and relatedness analysis powered by a database of over 171,000 Mycobacterium tuberculosis genomes

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Authors

JPJody E. PhelanWSWaritta SawaengdeeJTJoseph Thorpe

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Overview

Computational analysis reveals expanded drug resistance profiling across 17 therapies in Mycobacterium tuberculosis, highlighting enhanced global genomic surveillance capabilities.

Key Points

  • To expand TB-Profiler's analytical capabilities by updating drug resistance mutation libraries, integrating a massive global genomic repository, and implementing tools to determine genomic relatedness for outbreak tracking.
  • Expanded TB-Profiler (v6.6.5) resistance mutation libraries to cover 17 anti-tuberculosis drugs using World Health Organization interpretation rules and curated loss-of-function mutations.
  • Integrated a curated global database comprising over 170,000 Mycobacterium tuberculosis genomes from 136 countries representing all major phylogenetic lineages.
  • Implemented algorithms to calculate and visualize genomic relatedness between isolates and evaluated transmission detection using clinical isolates from Uganda.
  • Updated resistance profiling to cover 17 anti-TB agents, including newly added delamanid, pretomanid, bedaquiline, clofazimine, cycloserine/terizidone, and para-aminosalicylic acid.
  • Integrated global allele frequency estimation and isolate-relatedness tools that successfully identified potential local transmission events in Ugandan isolate datasets.
  • Added multilingual reporting functions to support decentralized clinical decision-making and international public health surveillance.

Cite This Study

Phelan et al. (2026) studied this question.

synapsesocial.com/papers/6aa913609013453be30a1370https://doi.org/10.1186/s13073-026-01767-y
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