• Biology, Medicine
  • Published in
    American journal of human…
    2005
  • DOI:10.1086/431652

Segmental duplications and copy-number variation in the human genome.

@article{Sharp2005SegmentalDA,
  title={Segmental duplications and copy-number variation in the human genome.},
  author={Andrew J Sharp and Devin P. Locke and Sean D. McGrath and Ze Cheng and Jeffrey A. Bailey and Rhea U. Vallente and Lisa M. Pertz and Royden A. Clark and Stuart H. Schwartz and Rick Segraves and Vanessa V Oseroff and Donna Albertson and Daniel Pinkel and Evan E. Eichler},
  journal={American journal of human genetics},
  year={2005},
  volume={77 1},
  pages={
          78-88
        }
}
The human genome contains numerous blocks of highly homologous duplicated sequence. This higher-order architecture provides a substrate for recombination and recurrent chromosomal rearrangement associated with genomic disease. However, an assessment of the role of segmental duplications in normal variation has not yet been made. On the basis of the duplication architecture of the human genome, we defined a set of 130 potential rearrangement hotspots and constructed a targeted bacterial… CONTINUE READING

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