Access

Letter

Nature Genetics 37, 727–732 (1 July 2005) | doi:10.1038/ng1562

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

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.