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

Author

Listed:
  • The BAC Resource Consortium
  • V. G. Cheung

    (University of Pennsylvania, The Children's Hospital of Philadelphia)

  • N. Nowak

    (Roswell Park Cancer Institute)

  • W. Jang

    (National Center for Biotechnology Information, National Library of Medicine, Building 38A/Room 8N805)

  • I. R. Kirsch

    (National Cancer Institute, NIH, Building 10/Room 12N214)

  • S. Zhao

    (The Institute for Genomic Research)

  • X.-N. Chen

    (Cedars-Sinai Medical Center)

  • T. S. Furey

    (University of California Santa Cruz)

  • U.-J. Kim

    (California Institute of Technology
    PanGenomics)

  • W.-L. Kuo

    (University of California San Francisco Cancer Center)

  • M. Olivier

    (Stanford University, Genome Lab)

  • J. Conroy

    (Roswell Park Cancer Institute)

  • A. Kasprzyk

    (Sanger Center, Wellcome Trust Genome Campus)

  • H. Massa

    (Fred Hutchinson Cancer Research Center)

  • R. Yonescu

    (National Cancer Institute, NIH, Building 10/Room 12N214)

  • S. Sait

    (Roswell Park Cancer Institute)

  • C. Thoreen

    (University of Washington
    Cell Biology)

  • A. Snijders

    (University of California San Francisco Cancer Center)

  • E. Lemyre

    (Brigham and Women's Hospital, Amory Lab Building 3rd floor)

  • J. A. Bailey

    (Case Western Reserve University)

  • A. Bruzel

    (University of Pennsylvania, The Children's Hospital of Philadelphia)

  • W. D. Burrill

    (Sanger Center, Wellcome Trust Genome Campus)

  • S. M. Clegg

    (Sanger Center, Wellcome Trust Genome Campus)

  • S. Collins

    (University of Washington)

  • P. Dhami

    (Sanger Center, Wellcome Trust Genome Campus)

  • C. Friedman

    (Fred Hutchinson Cancer Research Center)

  • C. S. Han

    (Joint Genome Institute-Los Alamos National Laboratory, MS M888 B-N1)

  • S. Herrick

    (Brigham and Women's Hospital, Amory Lab Building 3rd floor)

  • J. Lee

    (California Institute of Technology)

  • A. H. Ligon

    (Brigham and Women's Hospital, Amory Lab Building 3rd floor)

  • S. Lowry

    (Joint Genome Institute-Lawrence Berkeley National Laboratory)

  • M. Morley

    (University of Pennsylvania, The Children's Hospital of Philadelphia)

  • S. Narasimhan

    (University of Pennsylvania, The Children's Hospital of Philadelphia)

  • K. Osoegawa

    (Roswell Park Cancer Institute
    Children's Hospital Oakland Research Institute)

  • Z. Peng

    (Joint Genome Institute-Lawrence Berkeley National Laboratory)

  • I. Plajzer-Frick

    (Joint Genome Institute-Lawrence Berkeley National Laboratory)

  • B. J. Quade

    (Brigham and Women's Hospital, Amory Lab Building 3rd floor)

  • D. Scott

    (Joint Genome Institute-Lawrence Berkeley National Laboratory)

  • K. Sirotkin

    (National Center for Biotechnology Information, National Library of Medicine, Building 38A/Room 8N805)

  • A. A. Thorpe

    (Sanger Center, Wellcome Trust Genome Campus)

  • J. W. Gray

    (University of California San Francisco Cancer Center)

  • J. Hudson

    (Research Genetics)

  • D. Pinkel

    (University of California San Francisco Cancer Center)

  • T. Ried

    (National Cancer Institute, NIH, Building 10/Room 12N214)

  • L. Rowen

    (Institute for Systems Biology)

  • G. L. Shen-Ong

    (National Cancer Institute, NIH, Building 10/Room 12N214
    Gene Logic, Inc.)

  • R. L. Strausberg

    (National Cancer Institute, NIH, Building 10/Room 12N214)

  • E. Birney

    (Sanger Center, Wellcome Trust Genome Campus)

  • D. F. Callen

    (Women's and Children's Hospital)

  • J.-F. Cheng

    (Joint Genome Institute-Lawrence Berkeley National Laboratory)

  • D. R. Cox

    (Stanford University, Genome Lab)

  • N. A. Doggett

    (Joint Genome Institute-Los Alamos National Laboratory, MS M888 B-N1)

  • N. P. Carter

    (Sanger Center, Wellcome Trust Genome Campus)

  • E. E. Eichler

    (Case Western Reserve University)

  • D. Haussler

    (Howard Hughes Medical Institute, University of California Santa Cruz)

  • J. R. Korenberg

    (Cedars-Sinai Medical Center)

  • C. C. Morton

    (Brigham and Women's Hospital, Amory Lab Building 3rd floor)

  • D. Albertson

    (University of California San Francisco Cancer Center)

  • G. Schuler

    (National Center for Biotechnology Information, National Library of Medicine, Building 38A/Room 8N805)

  • P. J. de Jong

    (Roswell Park Cancer Institute
    Children's Hospital Oakland Research Institute)

  • B. J. Trask

    (Fred Hutchinson Cancer Research Center)

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 map1,2 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.

Suggested Citation

  • The BAC Resource Consortium & 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. Yones, 2001. "Integration of cytogenetic landmarks into the draft sequence of the human genome," Nature, Nature, vol. 409(6822), pages 953-958, February.
    • Handle: RePEc:nat:nature:v:409:y:2001:i:6822:d:10.1038_35057192
    DOI: 10.1038/35057192
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    Cited by:

    1. Xiaoying Xu & Pablo Jané & Vincent Taelman & Eduardo Jané & Rebecca A. Dumont & Yonathan Garama & Francisco Kim & María Val Gómez & Karim Gariani & Martin A. Walter, 2024. "The Theranostic Genome," Nature Communications, Nature, vol. 15(1), pages 1-12, December.

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