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Letter
Nature Genetics  37, 727 - 732 (2005)
Published online: 15 May 2005; | doi:10.1038/ng1562

Fine-scale structural variation of the human genome

Eray Tuzun1, 5, Andrew J Sharp1, 5, Jeffrey A Bailey2, 5, Rajinder Kaul3, V Anne Morrison1, Lisa M Pertz2, Eric Haugen3, Hillary Hayden3, Donna Albertson4, Daniel Pinkel4, Maynard V Olson3 & Evan E Eichler1

1  Department of Genome Sciences, University of Washington School of Medicine, 1705 NE Pacific Street, Seattle, Washington 98195, USA.

2  Department of Genetics, Case Western Reserve University, Cleveland, Ohio 44106, USA.

3  Department of Medicine and the University of Washington Genome Sequencing Center, University of Washington, Seattle, Washington 98195, USA.

4  Comprehensive Cancer Center, University of California San Francisco, San Francisco, California 94143, USA.

5  These authors contributed equally to this work.

Correspondence should be addressed to Evan E Eichler eee@gs.washington.edu
Inversions, deletions and insertions are important mediators of disease and disease susceptibility1. We systematically compared the human genome reference sequence with a second genome (represented by fosmid paired-end sequences) to detect intermediate-sized structural variants >8 kb in length. We identified 297 sites of structural variation: 139 insertions, 102 deletions and 56 inversion breakpoints. Using combined literature, sequence and experimental analyses, we validated 112 of the structural variants, including several that are of biomedical relevance. These data provide a fine-scale structural variation map of the human genome and the requisite sequence precision for subsequent genetic studies of human disease.


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Nature Genetics
ISSN: 1061-4036
EISSN: 1546-1718
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