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Type: Journal article
Title: Integration of cytogenetic landmarks into the draft sequence of the human genome
Author: Cheung, V.
Nowak, N.
Jang, W.
Kirsch, I.
Zhao, S.
Chen, X.
Furey, T.
Kim, U.
Kuo, W.
Olivier, M.
Conroy, J.
Kasprzyk, A.
Massa, H.
Yonescu, R.
Sait, S.
Thoreen, C.
Snijders, A.
Lemyre, E.
Bailey, J.
Bruzel, A.
et al.
Citation: Nature, 2001; 409(6822):953-958
Publisher: Nature Publishing Group
Issue Date: 2001
ISSN: 0028-0836
Statement of
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. Olivier, 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. Morley, 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. Pinke, 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
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.
Keywords: BAC Resource Consortium
Chromosomes, Artificial, Bacterial
Chromosome Aberrations
Genetic Markers
Cytogenetic Analysis
In Situ Hybridization, Fluorescence
Chromosome Mapping
Radiation Hybrid Mapping
Human Genome Project
Genome, Human
Sequence Tagged Sites
Description: © 2001 Nature Publishing Group
DOI: 10.1038/35057192
Published version:
Appears in Collections:Aurora harvest
Medicine publications

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