Discovering transcriptional signatures of disease for diagnosis versus mechanism

Nat Rev Immunol. 2018 May;18(5):289-290. doi: 10.1038/nri.2018.26. Epub 2018 Apr 9.


Transcriptional signatures of disease can be used for diagnosis or to gain insight into disease mechanisms. This Comment article discusses the different sets of criteria that should be considered for the optimal design of investigations addressing these two purposes, using examples from the study of tuberculosis.

MeSH terms

  • Cohort Studies
  • Data Interpretation, Statistical
  • Diagnosis*
  • Diagnostic Tests, Routine
  • Disease / etiology*
  • Disease / genetics
  • Gene Expression Profiling* / statistics & numerical data
  • Humans
  • Transcriptome
  • Tuberculosis, Pulmonary / diagnosis
  • Tuberculosis, Pulmonary / etiology
  • Tuberculosis, Pulmonary / genetics