Article
Mapping copy number variation by population-scale genome sequencing.
Nature - 3 Feb 2011
Mills Ryan E, Walter Klaudia, Stewart Chip, Handsaker Robert E, Chen Ken, Alkan Can, Abyzov Alexej, Yoon Seungtai Chris, Ye Kai, Cheetham R Keira, Chinwalla Asif, Conrad Donald F, Fu Yutao, Grubert Fabian, Hajirasouliha Iman, Hormozdiari Fereydoun, Iakoucheva Lilia M, Iqbal Zamin, Kang Shuli, Kidd Jeffrey M, Konkel Miriam K, Korn Joshua, Khurana Ekta, Kural Deniz, Lam Hugo Y K, Leng Jing, Li Ruiqiang, Li Yingrui, Lin Chang-Yun, Luo Ruibang, Mu Xinmeng Jasmine, Nemesh James, Peckham Heather E, Rausch Tobias, Scally Aylwyn, Shi Xinghua, Stromberg Michael P, Stütz Adrian M, Urban Alexander Eckehart, Walker Jerilyn A, Wu Jiantao, Zhang Yujun, Zhang Zhengdong D, Batzer Mark A, Ding Li, Marth Gabor T, McVean Gil, Sebat Jonathan, Snyder Michael, Wang Jun, Ye Kenny, Eichler Evan E, Gerstein Mark B, Hurles Matthew E, Lee Charles, McCarroll Steven A, Korbel Jan O
Abstract excerpt
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...
Topics
- DNA Copy Number Variations
- Gene Duplication
- Genetic Predisposition to Disease
- Genetics, Population
- Genome, Human