Cultivating DNA Sequencing Technology After the Human Genome Project

Annu Rev Genomics Hum Genet. 2020 Aug 31:21:117-138. doi: 10.1146/annurev-genom-111919-082433. Epub 2020 Apr 13.

Abstract

When the Human Genome Project was completed in 2003, automated Sanger DNA sequencing with fluorescent dye labels was the dominant technology. Several nascent alternative methods based on older ideas that had not been fully developed were the focus of technical researchers and companies. Funding agencies recognized the dynamic nature of technology development and that, beyond the Human Genome Project, there were growing opportunities to deploy DNA sequencing in biological research. Consequently, the National Human Genome Research Institute of the National Institutes of Health created a program-widely known as the Advanced Sequencing Technology Program-that stimulated all stages of development of new DNA sequencing methods, from innovation to advanced manufacturing and production testing, with the goal of reducing the cost of sequencing a human genome first to $100,000 and then to $1,000. The events of this period provide a powerful example of how judicious funding of academic and commercial partners can rapidly advance core technology developments that lead to profound advances across the scientific landscape.

Keywords: $1,000 genome technology program; Advanced Sequencing Technology Program; National Human Genome Research Institute; National Institutes of Health; funding agency; funding model; nanopore DNA sequencing; next-generation DNA sequencing; peer review.

Publication types

  • Review

MeSH terms

  • Genome, Human*
  • High-Throughput Nucleotide Sequencing / methods*
  • Human Genome Project*
  • Humans
  • Sequence Analysis, DNA / methods*