Diagnostics based on nucleic acid sequence variant profiling: PCR, hybridization, and NGS approaches

Adv Drug Deliv Rev. 2016 Oct 1;105(Pt A):3-19. doi: 10.1016/j.addr.2016.04.005. Epub 2016 Apr 16.


Nucleic acid sequence variations have been implicated in many diseases, and reliable detection and quantitation of DNA/RNA biomarkers can inform effective therapeutic action, enabling precision medicine. Nucleic acid analysis technologies being translated into the clinic can broadly be classified into hybridization, PCR, and sequencing, as well as their combinations. Here we review the molecular mechanisms of popular commercial assays, and their progress in translation into in vitro diagnostics.

Keywords: Hybridization; Molecular diagnostics; Next-generation sequencing; Nucleic acid tests; PCR.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Humans
  • Hybridization, Genetic
  • Molecular Diagnostic Techniques*
  • Nucleic Acids / genetics*
  • Polymerase Chain Reaction
  • Sequence Analysis


  • Nucleic Acids