Idea or model
Human genome
The full DNA sequence of a human. Drafts were published in 2001, and the first gap-free sequence in 2022.
DNA sequencing
Reading the order of the bases in DNA, from single genes to whole genomes.Source: Sanger et al., 1977Source: Nurk et al., 2022
Step 3 of 7ReadingTechnology or method
How it works
Sequencing reads the order of the letters A, C, G and T in DNA.
Early methods read one fragment at a time; modern machines read millions of fragments in parallel and computers assemble them into whole genomes.
From chain-terminator chemistry to massively parallel and long-read platforms, sequencing cost has fallen dramatically. Long reads helped complete the first gapless human genome in 2022.
- Used for
- Diagnosing genetic conditions
- Tracking outbreaks
- Studying evolution and biodiversity
Safety and ethics
Genomes reveal information about relatives too, so privacy and consent matter.
How DNA sequencing connects
DNA sequencing makes possible
DNA sequencing uses
Level of life
DNA
The molecule that stores the genetic instructions of all cellular life: two strands wound into a double helix and held together by base pairs.
DNA sequencing is related to
Technology or method
Bioinformatics
Using computers to store, search and analyze biological data such as DNA and protein sequences.
Explore further
Your progress
Sources & further reading
The explanations on this page are our own summaries of these sources. Follow a link to read the original; if anything here disagrees with it, the original wins. How we choose and check sources.
DNA sequencing with chain-terminating inhibitors (opens the original in a new tab)
Sanger F, Nicklen S, Coulson AR (1977). Proceedings of the National Academy of Sciences 74:5463-5467.
Peer-reviewedPrimary researchThe complete sequence of a human genome (opens the original in a new tab)
Nurk S, Koren S, Rhie A, et al. (2022). Science 376:44-53.
The Telomere-to-Telomere consortium's gapless human genome assembly.
Peer-reviewedPrimary researchHuman Genome Project Fact Sheet (opens the original in a new tab)
National Human Genome Research Institute. genome.gov. National Human Genome Research Institute, NIH.
Fact sheetGovernment source