An integrated map of structural variation in 2,504 human genomes

  title={An integrated map of structural variation in 2,504 human genomes},
  author={Peter Sudmant and Tobias Rausch and Eugene J. Gardner and Robert E. Handsaker and Alexej Abyzov and John Huddleston and Yan Zhang and Kai Ye and Goo Jun and Markus Hsi-Yang Fritz and Miriam Konkel and Ankit Malhotra and Adrian M. St{\"u}tz and Xinghua Shi and Francesco Paolo Casale and Jieming Chen and Fereydoun Hormozdiari and Gargi Dayama and Ken Chung Chen and Maika Malig and Mark Chaisson and Klaudia Walter and Sascha Meiers and S. M. Kashin and Erik Garrison and Adam Auton and Hugo Y. K. Lam and Xinmeng Jasmine Mu and Can Alkan and Danny Antaki and Taejeong Bae and Eliza Cerveira and Peter S. Chines and Zechen Chong and Laura Clarke and Elif Dal and Li Ding and Sarah B. Emery and Xian Ping Fan and Madhusudan Gujral and Fatma Kahveci and Jeffrey M. Kidd and Yu Gyeong Kong and Eric-Wubbo E M W Lameijer and Shane A. McCarthy and Paul Flicek and Richard A. Gibbs and Gabor T. Marth and Christopher E. Mason and Androniki Menelaou and Donna M. Muzny and Bradley J Nelson and Amina Noor and Nicholas F Parrish and Matthew R Pendleton and Andrew Quitadamo and Benjamin Raeder and Eric E. Schadt and Mallory Romanovitch and Andreas Schlattl and Robert P. Sebra and Andrey A. Shabalin and Andreas Untergasser and Jerilyn A. Walker and Min Wang and Fuli Yu and Chengsheng Zhang and Jing Maria Zhang and Xiangqun Zheng-Bradley and Wanding Zhou and Thomas Zichner and Jonathan Sebat and Mark A. Batzer and Steven A. McCarroll and Ryan E Mills and Mark B Gerstein and Ali Bashir and Oliver Stegle and Scott E. Devine and Charles Lee and Evan E. Eichler and Jan O. Korbel},
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 gene-intersecting structural variants exhibiting population stratification and… CONTINUE READING
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Large multiallelic copy number variations in humans

  • RE Handsaker
  • Nat Genet. 2015 doi: 10.1038/ng.3200
  • 2015

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