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Completing the map of human genetic variation

Nature volumeΒ 447,Β pages 161–165 (2007)Cite this article

A plan to identify and integrate normal structural variation into the human genome sequence.

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Figure 1: Paired-end sequence approach.
Figure 2: Sequencing structural variation.

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Acknowledgements

We thank R. Spielman and three anonymous reviewers for helpful comments.

Author information

Authors and Affiliations

  1. Department of Genome Sciences, University of Washington, Seattle, 98195, Washington, USA

    Evan E. Eichler,Β Deborah A. NickersonΒ &Β Robert H. Waterston

  2. Department of Howard Hughes Medical Institute, University of Washington, Seattle, 98195, Washington, USA

    Evan E. Eichler

  3. Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, 02142, Massachusetts, USA

    David AltshulerΒ &Β Charles Lee

  4. Department of Genetics, Washington University School of Medicine, St. Louis, 63110, Missouri, USA

    Anne M. Bowcock

  5. National Human Genome Research Institute, National Institutes of Health, Bethesda, 20892, Maryland, USA

    Lisa D. Brooks,Β Adam FelsenfeldΒ &Β Mark Guyer

  6. Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, CB4 5RW, UK

    Nigel P. Carter

  7. National Center for Biotechnology Information, National Library of Medicine, Bethesda, 20894, Maryland, USA

    Deanna M. ChurchΒ &Β Stephen T. Sherry

  8. Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, 02115, Massachusetts, USA

    Charles Lee

  9. Department of Molecular and Human Genetics, Department of Pediatrics, and Texas Children's Hospital, Baylor College of Medicine, Houston, 77030, Texas, USA

    James R. Lupski

  10. Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, 20892, Maryland, USA

    James C. Mullikin

  11. Department of Human Genetics, University of Chicago, Chicago, 60637, Illinois, USA

    Jonathan K. Pritchard

  12. Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, 11724, USA

    Jonathan Sebat

  13. Agencourt Bioscience Corporation, Beverly, 01915, Massachusetts, USA

    Douglas Smith

  14. Johns Hopkins University School of Medicine, Baltimore, 21025, Maryland, USA

    David Valle

Consortia

The Human Genome Structural Variation Working Group

  • Evan E. Eichler
  • ,Β Deborah A. Nickerson
  • ,Β David Altshuler
  • ,Β Anne M. Bowcock
  • ,Β Lisa D. Brooks
  • ,Β Nigel P. Carter
  • ,Β Deanna M. Church
  • ,Β Adam Felsenfeld
  • ,Β Mark Guyer
  • ,Β Charles Lee
  • ,Β James R. Lupski
  • ,Β James C. Mullikin
  • ,Β Jonathan K. Pritchard
  • ,Β Jonathan Sebat
  • ,Β Stephen T. Sherry
  • ,Β Douglas Smith
  • ,Β David Valle
  • Β &Β Robert H. Waterston

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Competing interests

The author declare no competing financial interests.

Additional information

Reprints and permissions information is available at www.nature.com/reprints. Correspondence and requests for materials should be addressed to E.E.E. (eee@gs.washington.edu).

Author Contributions E.E.E., D.A.N., D.A., A.F., J.R.L. and S.T.S. wrote the manuscript. A.M.B, L.D.B., N.P.C., D.M.C., M.G., C.L., J.C.M., J.K.P., J.S., D.S., D.V. and R.H.W. contributed to the plan design and provided comments and suggestions during preparation of the manuscript.

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The Human Genome Structural Variation Working Group. Completing the map of human genetic variation. Nature 447, 161–165 (2007). https://doi.org/10.1038/447161a

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