Genetics Codexery

DNA sequencing

Last updated

DNA sequencing determines the order of the four bases—adenine, thymine, cytosine, and guanine—in a DNA molecule.[1][2] Knowledge of DNA sequences is essential for basic biological research, medical diagnosis, biotechnology, forensic biology, virology, and biological systematics.[3] Medical professionals can use comparisons of DNA sequences from healthy individuals and those with mutations to identify various cancers, profile antibody populations, and inform treatment decisions.[3]

Key facts and history

Frederick Sanger completed the first amino acid sequence of a protein, insulin, by 1955, providing evidence that proteins have specific molecular patterns.[4] The first DNA sequences were obtained in the early 1970s using laborious two-dimensional chromatography methods.[5] Ray Wu established the first method for determining DNA sequences using a location-specific primer extension strategy at Cornell University in 1970.[6] In 2022, researchers finished sequencing the roughly 3 billion bases that make up a complete human genome.[7]

In February 2025, Roche announced development of a new sequencing method called sequencing by expansion (SBX) technology.[8][9] Based on X-ray diffraction images produced by Rosalind Franklin and Maurice Wilkins, the British physicist Francis Crick and the American biologist James Watson proposed a model for DNA's molecular structure in 1953.[10][11] Frederick Sanger and his team introduced a primer-extension technique in 1977 that relied on chain-terminating dideoxynucleotides (ddNTPs), and this approach became widely preferred because it was simpler and more dependable than existing methods.[12][13] The Human Genome Project, finished in 2003, had generated a draft human genome sequence that covered roughly 92% of the total.[14][7]

What the research sources say

The NHGRI has tracked that the cost to generate a high-quality draft human genome sequence dropped to about $14 million by 2006.[15] PacBio demonstrated that single-molecule real-time DNA sequencing can directly detect damaged DNA bases through analysis of DNA polymerase kinetics.[16] The PacBio HiFi method can read about 20,000 letters with nearly perfect accuracy, while Oxford Nanopore can read up to 1 million DNA letters at a time.[7] SBX enables highly accurate single-molecule nanopore sequencing using a CMOS-based sensor module with parallel processing capabilities.[9]

The SBX technology is designed to process numerous samples simultaneously, creating a scalable architecture for cost-efficient sequencing.[9]

References

  1. Wikipedia, "DNA sequencing" (CC BY-SA 4.0), which cites: Hargreaves, "Introducing 'dark DNA' – the phenomenon that could change how we think about evolution", 24 August 2017; "What is next generation sequencing?", Archives of Disease in Childhood: Education and Practice Edition, December 2013, p. 236–8 (original not read by us) en.wikipedia.org
  2. Wikipedia, "DNA sequencing" (CC BY-SA 4.0), which cites: "High resolution crystal structures of T4 phage beta-glucosyltransferase: induced fit and effect of substrate and metal binding", Journal of Molecular Biology, August 2001, p. 569–77; "Amount and distribution of 5-methylcytosine in human DNA from different types of tissues of cells", Nucleic Acids Research, April 1982, p. 2709–21; "5-Methylcytosine in eukaryotic DNA", Science, June 1981, p. 1350–7; "Sensitive and specific single-molecule sequencing of 5-hydroxymethylcytosine", Nature Methods, November 2011, p. 75–7 (original not read by en.wikipedia.org
  3. Wikipedia, "DNA sequencing" (CC BY-SA 4.0), which cites: "DNA sequencing of cancer: what have we learned?", Annual Review of Medicine, 2014-01-14, p. 63–79; "DNA sequence analysis with droplet-based microfluidics", Lab on a Chip, December 2013, p. 4864–9; "Quantitative and sensitive detection of rare mutations using droplet-based microfluidics", Lab on a Chip, July 2011, p. 2156–66; "DNA sequence analysis with droplet-based microfluidics", Lab on a Chip, December 2013, p. 4864–9 (original not read by us) en.wikipedia.org
  4. Wikipedia, "DNA sequencing" (CC BY-SA 4.0), which cites: Marks, "The path to DNA sequencing: The life and work of Frederick Sanger", What is Biotechnology? (we also read that source) en.wikipedia.org
  5. Wikipedia, "DNA sequencing" (CC BY-SA 4.0), which cites: "Use of automated sequencing of polymerase chain reaction-generated amplicons to identify three types of cholera toxin subunit B in Vibrio cholerae O1 strains", J. Clin. Microbiol., January 1993, p. 22–25; "Generations of sequencing technologies", Genomics, February 2009, p. 105–11; "DNA sequence analysis: a general, simple and rapid method for sequencing large oligodeoxyribonucleotide fragments by mapping", Nucleic Acids Research, March 1974, p. 331–53 (original not read by us) en.wikipedia.org
  6. Wikipedia, "DNA sequencing" (CC BY-SA 4.0), which cites: "Ray Wu Faculty Profile", Cornell University; "Chemical synthesis of a primer and its use in the sequence analysis of the lysozyme gene of bacteriophage T4", Proceedings of the National Academy of Sciences of the United States of America, June 1974, p. 2510–4; "Ray Wu as Fifth Business: Demonstrating Collective Memory in the History of DNA Sequencing", Studies in the History and Philosophy of Science, June 2014, p. 1–14; "Nucleotide sequence analysis of DNA", Nature New Biology, 1972, p. 198–200; "Nucleotide sequence analysis of DNA. IX. en.wikipedia.org
  7. "First complete sequence of a human genome", National Institutes of Health (NIH), 2022-04-11. facts only, no text reused. nih.gov
  8. Wikipedia, "DNA sequencing" (CC BY-SA 4.0), which cites: Hale, "Roche rolls out new DNA 'sequencing-by-expansion' approach", www.fiercebiotech.com, 2025-02-21; "Roche unveils a new class of next-generation sequencing with its novel sequencing by expansion technology", www.roche.com (we also read that source) en.wikipedia.org
  9. "Roche unveils a new class of next-generation sequencing with its novel sequencing by expansion technology", www.roche.com. facts only, no text reused. roche.com
  10. Wikipedia, "DNA sequencing" (CC BY-SA 4.0), which cites: "The structure of DNA", Cold Spring Harb. Symp. Quant. Biol., 1953, p. 123–31 (original not read by us) en.wikipedia.org
  11. Marks, "The path to DNA sequencing: The life and work of Frederick Sanger", What is Biotechnology?. facts only, no text reused. whatisbiotechnology.org
  12. Wikipedia, "DNA sequencing" (CC BY-SA 4.0), which cites: "DNA sequencing with chain-terminating inhibitors", Proc. Natl. Acad. Sci. USA, December 1977, p. 5463–77; "A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase", J. Mol. Biol., May 1975, p. 441–48 (original not read by us) en.wikipedia.org
  13. Wikipedia, "DNA sequencing" (CC BY-SA 4.0), which cites: Deharvengt, "Contemporary Practice in Clinical Chemistry", 2020, p. 215–234; Heather, "The sequence of sequencers: The history of sequencing DNA", Genomics, January 2016, p. 1–8; Elsayed, "Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer", Gastroenterology, December 2020, p. 2241–2243.e6; "DNA sequencing with chain-terminating inhibitors", Proc. Natl. Acad. Sci. USA, December 1977, p. 5463–77 (we also read that source) en.wikipedia.org
  14. Wikipedia, "DNA sequencing" (CC BY-SA 4.0), which cites: "Initial sequencing and analysis of the human genome", Nature, February 2001, p. 860–921; "The sequence of the human genome", Science, February 2001, p. 1304–51; "First complete sequence of a human genome", National Institutes of Health (NIH), 2022-04-11 (we also read that source) en.wikipedia.org
  15. Wetterstrand, "DNA Sequencing Costs: Data from the NHGRI Genome Sequencing Program (GSP)", National Human Genome Research Institute. facts only, no text reused. genome.gov
  16. "Direct detection and sequencing of damaged DNA bases.", PacBio. facts only, no text reused. pacb.com

Each numbered sentence above was checked against the source it cites before publication. Sentences citing Wikipedia adapt text from the English Wikipedia article DNA sequencing (contributors), used under CC BY-SA 4.0; this entry is available under the same licence. Other sources were used for facts only; no text or images are copied from them.

Also in the Codexery

DNA sequencing · Microbiology

More in Genetics

Dominance (genetics)Enhancer (genetics)EpigeneticsEpigenomeEpigenomicsExonExpression vectorExtranuclear inheritanceGene expressionGenetic codeGenetic diversityGenetic drift

Sources

Compiled from Wikipedia and the sources listed below. Text from Wikipedia is available under CC BY-SA 4.0; this entry is adapted from it.

Spotted an error? Know more?

Reader corrections go straight into our review queue. Suggest an edit · How this site is sourced

Comments

Loading…
Open in the interactive codex →