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

Cheung, V. G. and Kim, U.-J. and Lee, J. (2001) Integration of cytogenetic landmarks into the draft sequence of the human genome. Nature, 409 (6822). pp. 953-958. ISSN 0028-0836.

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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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Additional Information:© 2001 Macmillan Magazines Ltd. Received 7 November 1999; Accepted 20 December 2000. We thank M. Arcaro, M. Bakis, J. Burdick, J. Chang, H.-C. Chen, S. Chiu, Y. Fan, C. Harris, L. Haley, R. Hosseini, J. Kent, M. A. Leversha, J. Martin, L.-T. Nguyen, P. Quinn, Y. H. Ramsey, T. Reppert, L. J. Rogers, J. Shreve, J. Stalica, M. Wang, T. Weber, A. M. Yavor, J. Young, K. Zatloukal, and members of the TIGR BAC Ends Team for assistance. This work was supported by grants from NIH (NCI, NHGRI, NIDCD and NICHD), US DOE, NSF, HHMI, PPG, Merck Genome Research Institute, Vysis, Inc., and start-up funds provided by Obstetrics and Gynecology at Brigham and Women’s Hospital.
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Department of Energy (DOE)UNSPECIFIED
Howard Hughes Medical Institute (HHMI)UNSPECIFIED
Merck Genome Research InstituteUNSPECIFIED
Brigham and Women’s HospitalUNSPECIFIED
Issue or Number:6822
Record Number:CaltechAUTHORS:20150330-152656669
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Usage Policy:No commercial reproduction, distribution, display or performance rights in this work are provided.
ID Code:56219
Deposited By: Ruth Sustaita
Deposited On:30 Mar 2015 23:56
Last Modified:03 Oct 2019 08:12

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