Detection of large-scale variation in the human genome

@article{Iafrate2004DetectionOL,
  title={Detection of large-scale variation in the human genome},
  author={A. John Iafrate and Lars Feuk and Miguel N. Rivera and Marc L. Listewnik and Patricia K. Donahoe and Ying Qi and Stephen W. Scherer and Charles Lee},
  journal={Nature Genetics},
  year={2004},
  volume={36},
  pages={949-951}
}
We identified 255 loci across the human genome that contain genomic imbalances among unrelated individuals. Twenty-four variants are present in > 10% of the individuals that we examined. Half of these regions overlap with genes, and many coincide with segmental duplications or gaps in the human genome assembly. This previously unappreciated heterogeneity may underlie certain human phenotypic variation and susceptibility to disease and argues for a more dynamic human genome structure. 
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