Mapping copy number variation by population scale genome sequencing

@inproceedings{Mills2011MappingCN,
  title={Mapping copy number variation by population scale genome sequencing},
  author={Ryan E Mills and Klaudia Walter and Chip Stewart and Robert E. Handsaker and Ken Chen and Can Alkan and Alexej Abyzov and Seungtai Yoon and Kai Ye and R. Keira Cheetham and Asif T. Chinwalla and Donald F. Conrad and Yutao Fu and Fabian Grubert and Iman Hajirasouliha and Fereydoun Hormozdiari and Lilia M. Iakoucheva and Zamin Iqbal and Shuli Kang and Jeffrey M. Kidd and Miriam Konkel and J R Korn and Ekta Khurana and Deniz Kura and Hugo Y. K. Lam and Jing Leng and Ruiqiang Li and Yingrui Li and Chang-Yun Lin and Ruibang Luo and Xinmeng Jasmine Mu and James Nemesh and Heather E. Peckham and Tobias Rausch and Aylwyn Scally and Xinghua Shi and M. P. P. Samuel Stromberg and Adrian M. St{\"u}tz and Alexander E. Urban and Jerilyn A. Walker and Jiantao Wu and Yujun Zhang and Zhengdong D. Zhang and Mark A. Batzer and Li Ding and Gobor T. Marth and Gilean McVean and Jonathan Sebat and Michael P. Snyder and Jun Wang and Kenny Q. Ye and Evan E. Eichler and Mark B Gerstein and Matthew E. Hurles and Charles S. Lee and Steven A. McCarroll and Jan O. Korbel},
  booktitle={Nature},
  year={2011}
}
Genomic structural variants (SVs) are abundant in humans, differing from other forms of variation in extent, origin and functional impact. Despite progress in SV characterization, the nucleotide resolution architecture of most SVs remains unknown. We constructed a map of unbalanced SVs (that is, copy number variants) based on whole genome DNA sequencing data from 185 human genomes, integrating evidence from complementary SV discovery approaches with extensive experimental validations. Our map… CONTINUE READING
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