Structural variation of the human genome.

@article{Sharp2006StructuralVO,
  title={Structural variation of the human genome.},
  author={Andrew J. Sharp and Ze Cheng and Evan E. Eichler},
  journal={Annual review of genomics and human genetics},
  year={2006},
  volume={7},
  pages={407-42}
}
There is growing appreciation that the human genome contains significant numbers of structural rearrangements, such as insertions, deletions, inversions, and large tandem repeats. Recent studies have defined approximately 5% of the human genome as structurally variant in the normal population, involving more than 800 independent genes. We present a detailed review of the various structural rearrangements identified to date in humans, with particular reference to their influence on human… CONTINUE READING
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