Integration of cytogenetic landmarks into the draft sequence of the human genome

V. G. Cheung, N. Nowak, W. Jang, I. R. Kirsch, S. Zhao, X. N. Chen, T. S. Furey, U. J. Kim, W. L. Kuo, M. Olvier, J. Conroy, A. Kasprzyk, H. Massa, R. Yonescu, S. Sait, C. Thoreen, A. Snijders, E. Lemyre, J. A. Bailey, A. BruzelW. D. Burrill, S. M. Clegg, S. Collins, P. Dhami, C. Friedman, C. S. Han, S. Herrick, J. Lee, A. H. Ligon, S. Lowry, M. Moriey, S. Narasimhan, K. Osoegawa, Z. Peng, I. Plajzer-Frick, B. J. Quade, D. Scott, K. Sirotkin, A. A. Thorpe, J. W. Gray, J. Hudson, D. Pinkel, T. Ried, L. Rowen, G. L. Shen-Ong, R. L. Strausberg, E. Birney, D. F. Callen, J. F. Cheng, D. R. Cox, N. A. Doggett, N. P. Carter, E. E. Eichler, D. Haussler, J. R. Korenberg, C. C. Morton, D. Albertson, G. Schuler, P. J. De Jong, B. J. Trask

Research output: Contribution to journalLetter

238 Scopus citations

Abstract

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 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.

Original languageEnglish (US)
Pages (from-to)953-958
Number of pages6
JournalNature
Volume409
Issue number6822
DOIs
StatePublished - Feb 15 2001

ASJC Scopus subject areas

  • General

Fingerprint Dive into the research topics of 'Integration of cytogenetic landmarks into the draft sequence of the human genome'. Together they form a unique fingerprint.

  • Cite this

    Cheung, V. G., Nowak, N., Jang, W., Kirsch, I. R., Zhao, S., Chen, X. N., Furey, T. S., Kim, U. J., Kuo, W. L., Olvier, M., Conroy, J., Kasprzyk, A., Massa, H., Yonescu, R., Sait, S., Thoreen, C., Snijders, A., Lemyre, E., Bailey, J. A., ... Trask, B. J. (2001). Integration of cytogenetic landmarks into the draft sequence of the human genome. Nature, 409(6822), 953-958. https://doi.org/10.1038/35057192