Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification

@article{Du2012EfficientTO,
  title={Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification},
  author={Renqian Du and Chuncheng Lu and Zhengwen Jiang and Shilin Li and Ruixiao Ma and Haijia An and Miaofei Xu and Yu An and Yankai Xia and Li Jin and Xinru Wang and Feng Zhang},
  journal={Journal of Human Genetics},
  year={2012},
  volume={57},
  pages={545-551}
}
Local genomic architecture, such as segmental duplications (SDs), can induce copy number variations (CNVs) hotspots in the human genome, many of which manifest as genomic disorders. Significant technological advances have been achieved for genome-wide CNV investigations, but these costly methods are not suitable for genotyping certain disease-associated… CONTINUE READING