Cited by 1,212Advanced biosensing and bioanalysis techniquesGenomics and Phylogenetic StudiesGene expression and cancer classification

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Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

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., Baccash, Jonathan, Borcherding, Adam P., Brownley, Anushka, Cedeno, Ryan, Chen, Linsu, Chernikoff, Dan, Cheung, Alex, Chirita, Razvan, Curson, Benjamin, Ebert, Jessica C., Hacker, Coleen R., Hartlage, Robert, Hauser, Brian, Huang, Steve, Jiang, Yuan, Karpinchyk, Vitali, Koenig, Mark, Kong, Calvin, Landers, Tom, Le, Catherine, Liu, Jia, McBride, Celeste E., Morenzoni, Matt, Morey, Robert E., Mutch, Karl, Perazich, Helena, Perry, Kimberly, Peters, Brock A., Peterson, Joe, Pethiyagoda, Charit L., Pothuraju, Kaliprasad, Richter, Claudia, Rosenbaum, Abraham M., Roy, Shaunak, Shafto, Jay, Sharanhovich, Uladzislau, Shannon, Karen W., Sheppy, Conrad G., Sun, Michel, Thakuria, Joseph V., Tran, Anne, Vu, Dylan, Zaranek, Alexander Wait, Wu, Xiaodi, Drmanac, Snezana, Oliphant, Arnold R., Banyai, William C., Martin, Bruce, Ballinger, Dennis G., Church, George M., Reid, Clifford A.·2010·Science

DOI 10.1126/science.1181498

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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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Drmanac R., Crkvenjakov R., Sci. Yugosl. 16, 97 (1990); pdf accessible at www.rdrmanac.com.

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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: Halpern, Aaron L.
Jiang, Yuan
Liu, Jia
Morey, Robert E.
Perry, Kimberly
Peters, Brock A.
Sun, Michel
Zaranek, Alexander Wait
Wu, Xiaodi
Church, George M.
Reid, Clifford A.
Venue: Science
Publisher: American Association for the Advancement of Science (AAAS)
Published: 2010-01
Volume: 327
Issue: 5961
Pages: 78-81
ISSN: 0036-8075 (ISSN-L)
1095-9203
DOI: 10.1126/science.1181498
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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Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

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