High-throughput sequencing technologies

Mol Cell. 2015 May 21;58(4):586-97. doi: 10.1016/j.molcel.2015.05.004.


The human genome sequence has profoundly altered our understanding of biology, human diversity, and disease. The path from the first draft sequence to our nascent era of personal genomes and genomic medicine has been made possible only because of the extraordinary advancements in DNA sequencing technologies over the past 10 years. Here, we discuss commonly used high-throughput sequencing platforms, the growing array of sequencing assays developed around them, as well as the challenges facing current sequencing platforms and their clinical application.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Genome, Human / genetics*
  • Genomics / methods*
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Microbiota / genetics*
  • Neoplasms / genetics
  • Precision Medicine / methods
  • Transcriptome / genetics*