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; 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; D. Albertson; G. Schuler; P. J. De Jong; B. J. Trask

doi:10.1038/35057192

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

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, D. Albertson, G. Schuler, P. J. De Jong, B. J. Trask

Biochemistry

University at Buffalo

University of Pennsylvania
National Institutes of Health
J. Craig Venter Institute
Cedars-Sinai Medical Center
University of California at Santa Cruz
California Institute of Technology
PanGenomics
University of California at San Francisco
Stanford University
Roswell Park Cancer Institute
Wellcome Trust Sanger Institute
Fred Hutchinson Cancer Research Center
University of Washington
Harvard University
Brigham and Women’s Hospital
Case Western Reserve University
Los Alamos National Laboratory
Lawrence Berkeley National Laboratory
BACPAC Resources
Research Genetics
Institute for Systems Biology
Gene Logic Inc.
Women's and Children's Hospital Adelaide

Research output: Contribution to journal › Letter › peer-review

273 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 language	English
Pages (from-to)	953-958
Number of pages	6
Journal	Nature
Volume	409
Issue number	6822
DOIs	https://doi.org/10.1038/35057192
State	Published - Feb 15 2001

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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

@article{4de926a2f32b43f4bd36654df2d221db,

title = "Integration of cytogenetic landmarks into the draft sequence of the human genome",

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.",

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

year = "2001",

month = feb,

day = "15",

doi = "10.1038/35057192",

language = "English",

volume = "409",

pages = "953--958",

journal = "Nature",

issn = "0028-0836",

publisher = "Nature Research",

number = "6822",

}

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

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, D.

AU - Schuler, G.

AU - De Jong, P. J.

AU - Trask, B. J.

PY - 2001/2/15

Y1 - 2001/2/15

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/0035865257

U2 - 10.1038/35057192

DO - 10.1038/35057192

M3 - Letter

C2 - 11237021

SN - 0028-0836

VL - 409

SP - 953

EP - 958

JO - Nature

JF - Nature

IS - 6822

ER -

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

Abstract

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