Nanopore Sequencing and Its Clinical Applications

Methods Mol Biol. 2020;2204:13-32. doi: 10.1007/978-1-0716-0904-0_2.


Nanopore sequencing is a method for determining the order and modifications of DNA/RNA nucleotides by detecting the electric current variations when DNA/RNA oligonucleotides pass through the nanometer-sized hole (nanopore). Nanopore-based DNA analysis techniques have been commercialized by Oxford Nanopore Technologies, NabSys, and Sequenom, and widely used in scientific researches recently including human genomics, cancer, metagenomics, plant sciences, etc., moreover, it also has potential applications in the field of healthcare due to its fast turn-around time, portable and real-time data analysis. Those features make it a promising technology for the point-of-care testing (POCT) and its potential clinical applications are briefly discussed in this chapter.

Keywords: Integration site; Nanopore sequencing, point-of-care testing; Structure variation; Tumor suppressor gene.

Publication types

  • Review

MeSH terms

  • Animals
  • DNA / genetics
  • Genome, Human / genetics
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Metagenomics / methods
  • Metagenomics / trends
  • Nanopore Sequencing / methods*
  • Nanopore Sequencing / trends*
  • Nanopores
  • RNA / genetics
  • Sequence Analysis, DNA / methods


  • RNA
  • DNA