Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome.

@article{Locke2006LinkageDA,
  title={Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome.},
  author={Devin Paul Locke and Andrew J. Sharp and Steven A. McCarroll and Sean D. McGrath and Tera L. Newman and Ze Cheng and Stuart Schwartz and Donna Albertson and Daniel Pinkel and David M Altshuler and Evan E. Eichler},
  journal={American journal of human genetics},
  year={2006},
  volume={79 2},
  pages={275-90}
}
Studies of copy-number variation and linkage disequilibrium (LD) have typically excluded complex regions of the genome that are rich in duplications and prone to rearrangement. In an attempt to assess the heritability and LD of copy-number polymorphisms (CNPs) in duplication-rich regions of the genome, we profiled copy-number variation in 130 putative "rearrangement hotspot regions" among 269 individuals of European, Yoruba, Chinese, and Japanese ancestry analyzed by the International HapMap… CONTINUE READING
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