Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics

Nucleic Acids Res. 2018 Mar 16;46(5):2159-2168. doi: 10.1093/nar/gky066.


Short read massive parallel sequencing has emerged as a standard diagnostic tool in the medical setting. However, short read technologies have inherent limitations such as GC bias, difficulties mapping to repetitive elements, trouble discriminating paralogous sequences, and difficulties in phasing alleles. Long read single molecule sequencers resolve these obstacles. Moreover, they offer higher consensus accuracies and can detect epigenetic modifications from native DNA. The first commercially available long read single molecule platform was the RS system based on PacBio's single molecule real-time (SMRT) sequencing technology, which has since evolved into their RSII and Sequel systems. Here we capsulize how SMRT sequencing is revolutionizing constitutional, reproductive, cancer, microbial and viral genetic testing.

Publication types

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

MeSH terms

  • Bacterial Infections / diagnosis
  • Bacterial Infections / genetics*
  • DNA / chemistry*
  • DNA / genetics
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Models, Molecular
  • Molecular Diagnostic Techniques / methods*
  • Neoplasms / diagnosis
  • Neoplasms / genetics*
  • Nucleic Acid Conformation
  • Sensitivity and Specificity
  • Virus Diseases / diagnosis
  • Virus Diseases / genetics*


  • DNA