Single-Molecule Sequencing: Towards Clinical Applications

Adam Ameur, Wigard P. Kloosterman, Matthew S. Hestand

Research output: Contribution to journalReview ArticleOtherpeer-review

93 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)72-85
Number of pages14
JournalTrends in Biotechnology
Issue number1
Publication statusPublished - Jan 2019


  • clinical sequencing
  • long reads
  • nanopore
  • next-generation sequencing
  • single-molecule sequencing

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