Article
An integrated map of structural variation in 2,504 human genomes.
Nature - 1 Oct 2015
Sudmant Peter H, Rausch Tobias, Gardner Eugene J, Handsaker Robert E, Abyzov Alexej, Huddleston John, Zhang Yan, Ye Kai, Jun Goo, Fritz Markus Hsi-Yang, Konkel Miriam K, Malhotra Ankit, Stütz Adrian M, Shi Xinghua, Casale Francesco Paolo, Chen Jieming, Hormozdiari Fereydoun, Dayama Gargi, Chen Ken, Malig Maika, Chaisson Mark J P, Walter Klaudia, Meiers Sascha, Kashin Seva, Garrison Erik, Auton Adam, Lam Hugo Y K, Mu Xinmeng Jasmine, Alkan Can, Antaki Danny, Bae Taejeong, Cerveira Eliza, Chines Peter, Chong Zechen, Clarke Laura, Dal Elif, Ding Li, Emery Sarah, Fan Xian, Gujral Madhusudan, Kahveci Fatma, Kidd Jeffrey M, Kong Yu, Lameijer Eric-Wubbo, McCarthy Shane, Flicek Paul, Gibbs Richard A, Marth Gabor, Mason Christopher E, Menelaou Androniki, Muzny Donna M, Nelson Bradley J, Noor Amina, Parrish Nicholas F, Pendleton Matthew, Quitadamo Andrew, Raeder Benjamin, Schadt Eric E, Romanovitch Mallory, Schlattl Andreas, Sebra Robert, Shabalin Andrey A, Untergasser Andreas, Walker Jerilyn A, Wang Min, Yu Fuli, Zhang Chengsheng, Zhang Jing, Zheng-Bradley Xiangqun, Zhou Wanding, Zichner Thomas, Sebat Jonathan, Batzer Mark A, McCarroll Steven A, Mills Ryan E, Gerstein Mark B, Bashir Ali, Stegle Oliver, Devine Scott E, Lee Charles, Eichler Evan E, Korbel Jan O
Abstract excerpt
Structural variants are implicated in numerous diseases and make up the majority of varying nucleotides among human genomes. Here we describe an integrated set of eight structural variant classes comprising both balanced and unbalanced variants, which we constructed using short-read DNA sequencing data and statistically phased onto haplotype blocks in 26 human populations. Analysing this set, we identify numerous...
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