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. Bruzel & 40 others W. 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, Donna Albertson, G. Schuler, P. J. De Jong, B. J. Trask

Research output: Contribution to journalArticle

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

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Human Genome
Cytogenetics
Clone Cells
Genome
Chromosomes
Radiation Hybrid Mapping
Chromosome Structures
Fluorescence In Situ Hybridization
Chromosome Aberrations
Genes
Chromatin
Neoplasms

ASJC Scopus subject areas

  • General

Cite this

Cheung, V. G., Nowak, N., Jang, W., Kirsch, I. R., Zhao, S., Chen, X. N., ... 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

Integration of cytogenetic landmarks into the draft sequence of the human genome. / 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.; 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.; Moriey, 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, Donna; Schuler, G.; De Jong, P. J.; Trask, B. J.

In: Nature, Vol. 409, No. 6822, 15.02.2001, p. 953-958.

Research output: Contribution to journalArticle

Cheung, VG, Nowak, N, Jang, W, Kirsch, IR, Zhao, S, Chen, XN, Furey, TS, Kim, UJ, Kuo, WL, Olvier, M, Conroy, J, Kasprzyk, A, Massa, H, Yonescu, R, Sait, S, Thoreen, C, Snijders, A, Lemyre, E, Bailey, JA, Bruzel, A, Burrill, WD, Clegg, SM, Collins, S, Dhami, P, Friedman, C, Han, CS, Herrick, S, Lee, J, Ligon, AH, Lowry, S, Moriey, M, Narasimhan, S, Osoegawa, K, Peng, Z, Plajzer-Frick, I, Quade, BJ, Scott, D, Sirotkin, K, Thorpe, AA, Gray, JW, Hudson, J, Pinkel, D, Ried, T, Rowen, L, Shen-Ong, GL, Strausberg, RL, Birney, E, Callen, DF, Cheng, JF, Cox, DR, Doggett, NA, Carter, NP, Eichler, EE, Haussler, D, Korenberg, JR, Morton, CC, Albertson, D, Schuler, G, De Jong, PJ & Trask, BJ 2001, 'Integration of cytogenetic landmarks into the draft sequence of the human genome', Nature, vol. 409, no. 6822, pp. 953-958. https://doi.org/10.1038/35057192
Cheung VG, Nowak N, Jang W, Kirsch IR, Zhao S, Chen XN et al. Integration of cytogenetic landmarks into the draft sequence of the human genome. Nature. 2001 Feb 15;409(6822):953-958. https://doi.org/10.1038/35057192
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. ; 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. ; Moriey, 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, Donna ; Schuler, G. ; De Jong, P. J. ; Trask, B. J. / Integration of cytogenetic landmarks into the draft sequence of the human genome. In: Nature. 2001 ; Vol. 409, No. 6822. pp. 953-958.
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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.",
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TY - JOUR

T1 - Integration of cytogenetic landmarks into the draft sequence of the human genome

AU - Cheung, V. G.

AU - Nowak, N.

AU - Jang, W.

AU - Kirsch, I. R.

AU - Zhao, S.

AU - Chen, X. N.

AU - Furey, T. S.

AU - Kim, U. J.

AU - Kuo, W. L.

AU - Olvier, M.

AU - Conroy, J.

AU - Kasprzyk, A.

AU - Massa, H.

AU - Yonescu, R.

AU - Sait, S.

AU - Thoreen, C.

AU - Snijders, A.

AU - Lemyre, E.

AU - Bailey, J. A.

AU - Bruzel, A.

AU - Burrill, W. D.

AU - Clegg, S. M.

AU - Collins, S.

AU - Dhami, P.

AU - Friedman, C.

AU - Han, C. S.

AU - Herrick, S.

AU - Lee, J.

AU - Ligon, A. H.

AU - Lowry, S.

AU - Moriey, M.

AU - Narasimhan, S.

AU - Osoegawa, K.

AU - Peng, Z.

AU - Plajzer-Frick, I.

AU - Quade, B. J.

AU - Scott, D.

AU - Sirotkin, K.

AU - Thorpe, A. A.

AU - Gray, J. W.

AU - Hudson, J.

AU - Pinkel, D.

AU - Ried, T.

AU - Rowen, L.

AU - Shen-Ong, G. L.

AU - Strausberg, R. L.

AU - Birney, E.

AU - Callen, D. F.

AU - Cheng, J. F.

AU - Cox, D. R.

AU - Doggett, N. A.

AU - Carter, N. P.

AU - Eichler, E. E.

AU - Haussler, D.

AU - Korenberg, J. R.

AU - Morton, C. C.

AU - Albertson, Donna

AU - Schuler, G.

AU - De Jong, P. J.

AU - Trask, B. J.

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