Single-Molecule Sequencing: Towards Clinical Applications

Trends Biotechnol. 2019 Jan;37(1):72-85. doi: 10.1016/j.tibtech.2018.07.013. Epub 2018 Aug 13.


In the past several years, single-molecule sequencing platforms, such as those by Pacific Biosciences and Oxford Nanopore Technologies, have become available to researchers and are currently being tested for clinical applications. They offer exceptionally long reads that permit direct sequencing through regions of the genome inaccessible or difficult to analyze by short-read platforms. This includes disease-causing long repetitive elements, extreme GC content regions, and complex gene loci. Similarly, these platforms enable structural variation characterization at previously unparalleled resolution and direct detection of epigenetic marks in native DNA. Here, we review how these technologies are opening up new clinical avenues that are being applied to pathogenic microorganisms and viruses, constitutional disorders, pharmacogenomics, cancer, and more.

Keywords: clinical sequencing; long reads; nanopore; next-generation sequencing; single-molecule sequencing.

Publication types

  • Review

MeSH terms

  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Molecular Diagnostic Techniques / methods*
  • Molecular Diagnostic Techniques / trends
  • Molecular Medicine / methods*
  • Molecular Medicine / trends
  • Sequence Analysis, DNA / methods*