What would you do if you could sequence everything?
Open accessAbstract
It could be argued that the greatest transformative aspect of the Human Genome Project has been not the sequencing of the genome itself, but the resultant development of new technologies. A host of new approaches has fundamentally changed the way we approach problems in basic and translational research. Now, a new generation of high-throughput sequencing technologies promises to again transform the scientific enterprise, potentially supplanting array-based technologies and opening up many new possibilities. By allowing DNA/RNA to be assayed more rapidly than previously possible, these next-generation platforms promise a deeper understanding of genome regulation and biology. Significantly enhancing sequencing throughput will allow us to follow the evolution of viral and bacterial resistance in real time, to uncover the huge diversity of novel genes that are currently inaccessible, to understand nucleic acid therapeutics, to better integrate biological information for a complete picture of health and disease at a personalized level and to move to advances that we cannot yet imagine.
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Modern sequencing instruments are generating quality data at truly enormous rates.
“Modern sequencing instruments, for instance (e.g. [2453-2457]) are generating quality data at truly enormous rates [2458], and innovative but computationally demanding algorithms are required to deal with them (e.g. [2459]).”
From Iron behaving badly: inappropriate iron chelation as a major contributor to the aetiology of vascular and other progressive inflammatory and degenerative diseases (2009) · cites this paper as [2458]
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- Authors
- Kahvejian, A., Quackenbush, J., & Thompson, J. F.
- Affiliations
- Helicos Biosciences (United States) (US)
- Dana-Farber Cancer Institute (US)
- Corresponding author
- Quackenbush, John
- Venue
- Nature Biotechnology
- Published
- 2008-10
- Volume
- 26
- Issue
- 10
- Pages
- 1125-1133
- ISSN
- 0733-222X (ISSN-L)
- 1087-0156
- 1546-1696
- PMC
- PMC4153598
- OpenAlex
- W2087444873
- Cited by
- 189
- References
- 120
- Citations by year
- 2025: 5 · 2024: 1 · 2023: 2 · 2022: 3 · 2021: 3 · 2020: 11 · 2019: 7 · 2018: 7 · 2017: 10 · 2016: 7 · 2015: 9 · 2014: 10 · 2013: 18 · 2012: 18
- FWCI
- 10.61
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Biotechnology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (5r01lm010129-02)
- U.S. National Library of Medicine (R01-LM010129)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Gene expression and cancer classification
- Keywords
- next-generation sequencing, Human Genome Project, sequencing technology development, genome regulation, gene discovery, nucleic acid therapeutics, personalized medicine, array-based technologies
- MeSH terms
- Chromosome Mapping, Forecasting, Health Knowledge, Attitudes, Practice, Human Genome Project, Sequence Analysis, DNA, Databases, Genetic
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
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