Machine Learning of the Whole Genome Sequence of Mycobacterium tuberculosis: A Scoping PRISMA-Based Review

Tuberculosis (TB) remains one of the most significant global health problems, posing a significant challenge to public health systems worldwide. However, diagnosing drug-resistant tuberculosis (DR-TB) has become increasingly challenging due to the rising number of multidrug-resistant (MDR-TB) cases, despite the development of new TB diagnostic tools. Even the World Health Organization-recommended methods such as Xpert MTB/XDR or Truenat are unable to detect all the Mycobacterium tuberculosis genome mutations associated with drug resistance. While Whole Genome Sequencing offers a more precise DR profile, the lack of user-friendly bioinformatics analysis applications hinders its widespread use. This review focuses on exploring various artificial intelligence models for predicting DR-TB profiles, analyzing relevant English-language articles using the PRISMA methodology through the Covidence platform. Our findings indicate that an Artificial Neural Network is the most commonly employed method, with non-statistical dimensionality reduction techniques preferred over traditional statistical approaches such as Principal Component Analysis or t-distributed Stochastic Neighbor Embedding.

Automated summary

Tuberculosis remains a significant global health problem, and diagnosing drug-resistant tuberculosis has become more challenging due to an increasing number of multidrug-resistant cases. The recommended diagnostic methods are unable to detect all drug resistance-associated genetic mutations. Artificial intelligence models, particularly Artificial Neural Networks, are commonly employed for predicting drug resistance profiles in tuberculosis.