Abstract
This chapter is our fourth case study where we consider technological evolution in the life sciences. Specifically, we take a look at the discovery of DNA in the 1950s and its structure and ways to sequence these long molecular chains which contain the building block information for living organisms. Starting with chain termination methods in the 1960s and 1970s, the sequencing of DNA has made several orders of magnitude improvement in terms of speed, accuracy, and price. Today, it is possible to sequence the full genome of a human under $1000.
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Notes
- 1.
Watson JD, Crick FH (1953). “Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic Acid”. Nature. 171 (4356): 737–8. Bibcode:1953 Natur.171..737 W. doi:https://doi.org/10.1038/171737a0. PMID 13054692.
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A large fraction of this chapter is based on the open source Wikipedia article on DNA sequencing: https://en.wikipedia.org/wiki/DNA_sequencing
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The Human Genome Project launched by Craig Venter in the early 2000s was a major accelerator for DNA sequencing and genomics as we know it today.
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It is important to distinguish between the accuracy of reading a single DNA fragment which may contain about 300–600 [bp], versus the accuracy of an entire gene, chromosome or genome. Through repetition and statistical analysis of DNA fragment sequences, as shown in Fig. 18.5, it is possible to achieve almost perfect accuracy >99.9% in reading DNA with current technologies and techniques.
References
Nicol R, Woodruff L, Mikkelsen T, Voigt C, inventors; Massachusetts Institute of Technology, Broad Institute Inc, assignee. High-throughput assembly of genetic elements. United States patent application US 15/313,863. 2017 Sep 21.
Sanger, Frederick, Steven Nicklen, and Alan R. Coulson. “DNA sequencing with chain-terminating inhibitors.” Proceedings of the National Academy of Sciences 74, no. 12 (1977): 5463–5467.
Watson JD, Crick FH (1953). “Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic Acid”. Nature. 171 (4356): 737–8. Bibcode:1953 Natur.171..737W. doi:https://doi.org/10.1038/171737a0.
URL: https://www.broadinstitute.org/, accessed 1 Nov 2020
URL: https://en.wikipedia.org/wiki/DNA_sequencing, accessed 1 Nov 2020
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de Weck, O.L. (2022). Case 4: DNA Sequencing. In: Technology Roadmapping and Development . Springer, Cham. https://doi.org/10.1007/978-3-030-88346-1_18
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DOI: https://doi.org/10.1007/978-3-030-88346-1_18
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