Fine-scale structural variation of the human genome

@article{Tuzun2005FinescaleSV,
  title={Fine-scale structural variation of the human genome},
  author={Eray Tuzun and Andrew J. Sharp and Jeffrey A. Bailey and Rajinder Kaul and V Anne Morrison and Lisa M Pertz and Eric Haugen and H. S. Hayden and Donna Albertson and Daniel Pinkel and Maynard V. Olson and Evan E. Eichler},
  journal={Nature Genetics},
  year={2005},
  volume={37},
  pages={727-732}
}
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… 

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