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Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays
Abstract
Toward $1000 Genomes: The ability to generate human genome sequence data that is complete, accurate, and inexpensive is a necessary prerequisite to perform genome-wide disease association studies. Drmanac et al. (p. 78 , published online 5 November) present a technique advancing toward this goal. The method uses Type IIS endonucleases to incorporate short oligonucleotides within a set of randomly sheared circularized DNA. DNA polymerase then generates concatenated copies of the circular oligonucleotides leading to formation of compact but very long oligonucleotides which are then sequenced by ligation. The relatively low cost of this technology, which shows a low error rate, advances sequencing closer to the goal of the $1000 genome.
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“DNB sequencing is based on lithographically etched chips (patterned arrays) for in situ sequencing (Drmanac et al., 2010).”
From Spatiotemporal transcriptomic atlas of mouse organogenesis using DNA nanoball-patterned arrays (2022) · cites this paper as Drmanac et al., 2010
In the citing paper
“To rule out the possibility that TCC → T excess in Europe is a bioinformatic artifact specific to the 1000 Genomes data, I reproduced Fig. 1 A and B in a set of human genomes sequenced at high coverage using Complete Genomics technology (SI Appendix, section 3) (23).”
From Evidence for recent, population-specific evolution of the human mutation rate (2015) · cites this paper as [23]
In the citing paper
“To investigate the potential impact of such low coverage, for a few individuals that have been sequenced both at low coverage in 1000G and high coverage in Complete Genomics 56 , we compared the TMRCA estimation and population inferences between the two (Supplementary Note 1.2).”
From A Chronological Atlas of Natural Selection in the Human Genome during the Past Half-million Years (2015) · cites this paper as [56]
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Metadata
- Authors
- Drmanac, R., Sparks, A. B., Callow, M. J., Halpern, A. L., Burns, N. L., Kermani, B. G., Carnevali, P., Nazarenko, I., Nilsen, G. B., Yeung, G., Dahl, F., Fernandez, A., Staker, B., Pant, K. P., Baccash, J., Borcherding, A. P., Brownley, A., Cedeno, R., Chen, L., Chernikoff, D., Cheung, A., Chirita, R., Curson, B., Ebert, J. C., Hacker, C. R., Hartlage, R., Hauser, B., Huang, S., Jiang, Y., Karpinchyk, V., Koenig, M., Kong, C., Landers, T., Le, C., Liu, J., McBride, C. E., Morenzoni, M., Morey, R. E., Mutch, K., Perazich, H., Perry, K., Peters, B. A., Peterson, J., Pethiyagoda, C. L., Pothuraju, K., Richter, C., Rosenbaum, A. M., Roy, S., Shafto, J., Sharanhovich, U., Shannon, K. W., Sheppy, C. G., Sun, M., Thakuria, J. V., Tran, A., Vu, D., Zaranek, A. W., Wu, X., Drmanac, S., Oliphant, A. R., Banyai, W. C., Martin, B., Ballinger, D. G., Church, G. M., & Reid, C. A.
- Affiliations
- Complete Genomics (United States) (US)
- Complete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USA.
- Harvard University (US)
- Washington University in St. Louis (US)
- Corresponding author
- Drmanac, Radoje
- Sparks, Andrew B.
- Callow, Matthew J.
- Halpern, Aaron L.
- Burns, Norman L.
- Kermani, Bahram G.
- Carnevali, Paolo
- Nazarenko, Igor
- Nilsen, Geoffrey B.
- Yeung, George
- Dahl, Fredrik
- Fernandez, Andres
- Staker, Bryan
- Pant, Krishna P.
- Morey, Robert E.
- Shannon, Karen W.
- Ballinger, Dennis G.
- ORCID
- Venue
- Science
- Published
- 2010-01
- Volume
- 327
- Issue
- 5961
- Pages
- 78-81
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W1973950074
- Cited by
- 1,212
- References
- 32
- Citations by year
- 2026: 33 · 2025: 30 · 2024: 41 · 2023: 35 · 2022: 46 · 2021: 63 · 2020: 64 · 2019: 55 · 2018: 56 · 2017: 66 · 2016: 83 · 2015: 107 · 2014: 120 · 2013: 121 · 2012: 118
- FWCI
- 38.96
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Advanced biosensing and bioanalysis techniques
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Gene expression and cancer classification
- Keywords
- human genome sequencing, DNA nanotechnology, rare variants, low reagent consumption
- MeSH terms
- Base Sequence, Costs and Cost Analysis, DNA, Genotype, Haplotypes, Humans, Male, Software, Genomic Library, Genome, Human, Human Genome Project, Sequence Analysis, DNA, Computational Biology, Polymorphism, Single Nucleotide, Nucleic Acid Amplification Techniques, Databases, Nucleic Acid, Nanotechnology, Microarray Analysis, Nanostructures
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