40 years of Sanger sequencing

DNA sequencing has a remarkable history, in terms of inception and evolution of the technologies themselves, as well as the breadth and scope of problems to which they have been applied. This Nature collection celebrates the 40th anniversary of the Sanger method for DNA sequencing, the most widely used sequencing method, pioneered by Fred Sanger and his team in 1977.

In a Review and accompanying Milestones, Jay Shendure, Shankar Balasubramanian, George M. Church, Walter Gilbert, Jane Rogers, Jeffery A. Schloss and Robert H. Waterston review the evolution of sequencing technologies over the past 40 years. The Milestones list key advances in methods development, computational analyses and applications of genome sequencing. We also highlight a selection of key publications from these Milestones that appeared in Nature journals in the Methods, Genomes and Applications sections.

Accompanying news and commentary in Nature bring further perspectives on this 40 year anniversary of Sanger sequencing. In a Commentary Eric Green, Eddy Rubin and Maynard Olson share perspectives on the future of sequencing over the next 40 years. A Technology Feature explores recent progress in one emerging method, nanopore sequencing, showing potential to upend the DNA sequencing market. A News Feature provides context on genomics applications in direct to consumer genetic testing.

- Orli Bahcall, Senior Editor, Nature

LISTEN: Nature Podcast with NHGRI Director Eric Green on how DNA sequencing has transformed biology, and what might still be to come.

Milestones in applications of DNA sequencing 

The milestones listed below correspond to key developments in the applications of DNA sequencing in new ways or to new areas. These are large topics, and we apologize for any omissions.

1977: Genome sequencing

1982: Shotgun sequencing

1983, 1991: Expressed sequence tags: Putney et al. 1983Adams et al. 1991 ; 

1995: Serial analysis of gene expression

1998: Large-scale human SNP discovery

2004: Metagenome assembly

2005: Bacterial genome resequencing with NGS: Margulies et al. ; Shendure et al. 

2007: Chromatin immunoprecipitation followed by sequencing (ChIP–seq) using NGS

2007–2008: Human genome and cancer genome resequencing using NGS: Bentley et al. ; Wheeler et al. ; Wang et al. ; Ley et al. 

2008: RNA-seq using NGS: Cloonan et al. ; Lister et al. ; Mortazavi et al.Nagalakshmi et al. 

2008: Chromatin accessibility using NGS

2009: Exome resequencing using NGS

2009: Ribosome profiling using NGS

2010: Completion of Phase I of the 1000 Genomes Project

2010: De novo assembly of a large genome from short reads (giant panda)

2011: Haplotype-resolved human genome resequencing using next generation sequencing: Kitzman et al. ; Fan et al. 

2016: Human genome de novo assembly with PacBio: De novo assembly and phasing of a Korean human genome

2017: Human genome de novo assembly with nanopore