Fine-scale structural variation of the human genome

Eray Tuzun, Andrew J. Sharp, Jeffrey A. Bailey, Rajinder Kaul, V. Anne Morrison, Lisa M. Pertz, Eric Haugen, Hillary Hayden, Donna Albertson, Daniel Pinkel, Maynard V. Olson, Evan E. Eichler

Research output: Contribution to journalArticlepeer-review


Inversions, deletions and insertions are important mediators of disease and disease susceptibility. 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.

Original languageEnglish (US)
Pages (from-to)727-732
Number of pages6
JournalNature Genetics
Issue number7
StatePublished - 2005

ASJC Scopus subject areas

  • Genetics


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