The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Toward the $1000 Human Genome
Abstract
Revolutionary new technologies, capable of transforming the economics of sequencing, are providing an unparalleled opportunity to analyze human genetic variation comprehensively at the whole-genome level within a realistic timeframe and at affordable costs. Current estimates suggest that it would cost somewhere in the region of 30 million US dollars to sequence an entire human genome using Sanger-based sequencing, and on one machine it would take about 60 years. Solexa is widely regarded as a company with the necessary disruptive technology to be the first to achieve the ultimate goal of the so-called 1,000 dollars human genome - the conceptual cost-point needed for routine analysis of individual genomes. Solexa's technology is based on completely novel sequencing chemistry capable of sequencing billions of individual DNA molecules simultaneously, a base at a time, to enable highly accurate, low cost analysis of an entire human genome in a single experiment. When applied over a large enough genomic region, these new approaches to resequencing will enable the simultaneous detection and typing of known, as well as unknown, polymorphisms, and will also offer information about patterns of linkage disequilibrium in the population being studied. Technological progress, leading to the advent of single-molecule-based approaches, is beginning to dramatically drive down costs and increase throughput to unprecedented levels, each being several orders of magnitude better than that which is currently available. A new sequencing paradigm based on single molecules will be faster, cheaper and more sensitive, and will permit routine analysis at the whole-genome level.
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Cites
The sequence of the human genome
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The International HapMap Project
†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature · doi:10.1038/nature02168 · Cited by 6,057
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease
Ueda, H., Howson, J. M. M., Esposito, L., Heward, J., Snook, Chamberlain, G., Rainbow, D. B., Hunter, K. M. D., Smith, A. N., Di Genova, G., et al. (2003) · Nature · doi:10.1038/nature01621 · Cited by 2,175
Botstein, D., & Risch, N. (2003) · Nature Genetics · doi:10.1038/ng1090 · Cited by 1,503
Gene expression analysis by massively parallel signature sequencing (MPSS) on microbead arrays.
Brenner, S., Johnson, M., Bridgham, J., Golda, G., Lloyd, D. H., Johnson, D., Luo, S., McCurdy, S., Foy, M., Ewan, M., et al. (2000) · Nature Biotechnology · doi:10.1038/76469 · Cited by 1,360
Haplotype tagging for the identification of common disease genes
Johnson, G. C. L., Esposito, L., Barratt, B. J., Smith, A. N., Heward, J., Di Genova, G., Ueda, H., Cordell, H. J., Eaves, I. A., Dudbridge, F., et al. (2001) · Nature Genetics · doi:10.1038/ng1001-233 · Cited by 1,174
Bennett, S. T., Lucassen, A. M., Gough, S. C. L., Powell, E. E., Undlien, D. E., Pritchard, L. E., Merriman, M. E., Kawaguchi, Y., Dronsfield, M. J., Pociot, F., et al. (1995) · Nature Genetics · doi:10.1038/ng0395-284 · Cited by 746
Self-citation
Cited by
RNA-seq: An assessment of technical reproducibility and comparison with gene expression arrays
Marioni, J. C., Mason, C. E., Mane, S. M., Stephens, M., & Gilad, Y. (2008) · Genome Research · doi:10.1101/gr.079558.108 · Cited by 2,771
Applications of New Sequencing Technologies for Transcriptome Analysis
Morozova, O., Hirst, M., & Marra, M. A. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082908-145957 · Cited by 572
Advanced sequencing technologies and their wider impact in microbiology
Hall, N. (2007) · Journal of Experimental Biology · doi:10.1242/jeb.001370 · Cited by 373
Microbiology in the post-genomic era
Medini, D., Serruto, D., Parkhill, J., Relman, D. A., Donati, C., Moxon, R., Falkow, S., & Rappuoli, R. (2008) · Nature Reviews Microbiology · doi:10.1038/nrmicro1901 · Cited by 358
Parameswaran, P., Jalili, R., Tao, L., Shokralla, S., Gharizadeh, B., Ronaghi, M., & Fire, A. Z. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm760 · Cited by 344
Metadata
- Authors
- Bennett, S. T., Barnes, C., Cox, A., Davies, L., & Brown, C.
- Venue
- Pharmacogenomics
- Publisher
- Informa UK Limited
- Published
- 2005-07
- Volume
- 6
- Issue
- 4
- Pages
- 373-382
- ISSN
- 1462-2416 (ISSN-L)
- 1744-8042
- OpenAlex
- W2097794038
- Cited by
- 230
- References
- 7
- FWCI
- 7.14
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Toward the $1000 Human Genome. https://app.cochat.ai/papers/10.1517/14622416.6.4.373
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- Bennett, S. T., Barnes, C., Cox, A., Davies, L., & Brown, C. (2005). Toward the $1000 Human Genome. Pharmacogenomics. https://doi.org/10.1517/14622416.6.4.373
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
