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Integration of cytogenetic landmarks into the draft sequence of the human genome
Open accessAbstract
We have placed 7,600 cytogenetically defined landmarks on the draft sequence of the human genome to help with the characterization of genes altered by gross chromosomal aberrations that cause human disease. The landmarks are large-insert clones mapped to chromosome bands by fluorescence in situ hybridization. Each clone contains a sequence tag that is positioned on the genomic sequence. This genome-wide set of sequence-anchored clones allows structural and functional analyses of the genome. This resource represents the first comprehensive integration of cytogenetic, radiation hybrid, linkage and sequence maps of the human genome; provides an independent validation of the sequence map 1,2 and framework for contig order and orientation; surveys the genome for large-scale duplications, which are likely to require special attention during sequence assembly; and allows a stringent assessment of sequence differences between the dark and light bands of chromosomes. It also provides insight into large-scale chromatin structure and the evolution of chromosomes and gene families and will accelerate our understanding of the molecular bases of human disease and cancer.
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Cited by
Initial sequencing and analysis of the human genome
International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216
Self-citationThe Human Genome Browser at UCSC
Kent, W. J., Sugnet, C. W., Furey, T. S., Roskin, K. M., Pringle, T. H., Zahler, A. M., & Haussler, A. D. (2002) · Genome Research · doi:10.1101/gr.229102 · Cited by 10,400
Self-citationThree-Dimensional Maps of All Chromosomes in Human Male Fibroblast Nuclei and Prometaphase Rosettes
Bolzer, A., Kreth, G., Solovei, I., Koehler, D., Saracoglu, K., Fauth, C., Müller, S., Eils, R., Cremer, C., Speicher, M. R., et al. (2005) · PLoS Biology · doi:10.1371/journal.pbio.0030157 · Cited by 837
Sharp, A. J., Hansen, S., Selzer, R. R., Cheng, Z., Regan, R., Hurst, J. A., Stewart, H., Price, S. M., Blair, E., Hennekam, R. C., et al. (2006) · Nature Genetics · doi:10.1038/ng1862 · Cited by 658
Self-citationVissers, L. E. L. M., de Vries, B. B. A., Osoegawa, K., Janssen, I. M., Feuth, T., Choy, C. O., Straatman, H., van der Vliet, W., Huys, E. H. L. P. G., van Rijk, A., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/379977 · Cited by 469
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Metadata
- Authors
- BAC Resource Consortium, T., Cheung, V. G., Nowak, N., Jang, W., Kirsch, I. R., Zhao, S., Chen, X.-N., Furey, T. S., Kim, U.-J., Kuo, W.-L., Olivier, M., Conroy, J., Kasprzyk, A., Massa, H., Yonescu, R., Sait, S., Thoreen, C., Snijders, A., Lemyre, E., Bailey, J. A., Bruzel, A., Burrill, W. D., Clegg, S. M., Collins, S., Dhami, P., Friedman, C., Han, C. S., Herrick, S., Lee, J., Ligon, A. H., Lowry, S., Morley, M., Narasimhan, S., Osoegawa, K., Peng, Z., Plajzer-Frick, I., Quade, B. J., Scott, D., Sirotkin, K., Thorpe, A. A., Gray, J. W., Hudson, J., Pinkel, D., Ried, T., Rowen, L., Shen-Ong, G. L., Strausberg, R. L., Birney, E., Callen, D. F., Cheng, J.-F., Cox, D. R., Doggett, N. A., Carter, N. P., Eichler, E. E., Haussler, D., Korenberg, J. R., Morton, C. C., Albertson, D., Schuler, G., de Jong, P. J., & Trask, B. J.
- Venue
- Nature
- Published
- 2001-02-15
- Volume
- 409
- Issue
- 6822
- Pages
- 953-958
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W1978283952
- Cited by
- 316
- References
- 0
- FWCI
- 20.88
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- BAC Resource Consortium, T., Cheung, V. G., Nowak, N., Jang, W., Kirsch, I. R., Zhao, S., Chen, X.-N., Furey, T. S., Kim, U.-J., Kuo, W.-L., Olivier, M., Conroy, J., Kasprzyk, A., Massa, H., Yonescu, R., Sait, S., Thoreen, C., Snijders, A., Lemyre, E., . . . Trask, B. J. (2001). Integration of cytogenetic landmarks into the draft sequence of the human genome. Nature. https://doi.org/10.1038/35057192
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