Multi-platform discovery of haplotype-resolved structural variation in human genomes-Reference-Cited by-同舟云学术

Multi-platform discovery of haplotype-resolved structural variation in human genomes

Published:2019-04-16 Issue:1 Volume:10 Page:
ISSN:2041-1723
Container-title:Nature Communications
language:en
Short-container-title:Nat Commun

Author:

Chaisson Mark J. P.,Sanders Ashley D.,Zhao Xuefang^ORCID,Malhotra Ankit,Porubsky David,Rausch Tobias^ORCID,Gardner Eugene J.^ORCID,Rodriguez Oscar L.,Guo Li,Collins Ryan L.,Fan Xian,Wen Jia,Handsaker Robert E.^ORCID,Fairley Susan,Kronenberg Zev N.,Kong Xiangmeng,Hormozdiari Fereydoun,Lee Dillon,Wenger Aaron M.^ORCID,Hastie Alex R.,Antaki Danny^ORCID,Anantharaman Thomas,Audano Peter A.^ORCID,Brand Harrison,Cantsilieris Stuart,Cao Han,Cerveira Eliza,Chen Chong,Chen Xintong^ORCID,Chin Chen-Shan^ORCID,Chong Zechen^ORCID,Chuang Nelson T.,Lambert Christine C.,Church Deanna M.^ORCID,Clarke Laura^ORCID,Farrell Andrew,Flores Joey,Galeev Timur,Gorkin David U.^ORCID,Gujral Madhusudan,Guryev Victor,Heaton William Haynes,Korlach Jonas^ORCID,Kumar Sushant,Kwon Jee Young,Lam Ernest T.,Lee Jong Eun,Lee Joyce^ORCID,Lee Wan-Ping,Lee Sau Peng,Li Shantao,Marks Patrick,Viaud-Martinez Karine,Meiers Sascha,Munson Katherine M.^ORCID,Navarro Fabio C. P.^ORCID,Nelson Bradley J.,Nodzak Conor,Noor Amina,Kyriazopoulou-Panagiotopoulou Sofia,Pang Andy W. C.,Qiu Yunjiang^ORCID,Rosanio Gabriel,Ryan Mallory,Stütz Adrian,Spierings Diana C. J.,Ward Alistair,Welch AnneMarie E.,Xiao Ming,Xu Wei,Zhang Chengsheng,Zhu Qihui,Zheng-Bradley Xiangqun,Lowy Ernesto^ORCID,Yakneen Sergei^ORCID,McCarroll Steven,Jun Goo,Ding Li,Koh Chong Lek,Ren Bing^ORCID,Flicek Paul^ORCID,Chen Ken^ORCID,Gerstein Mark B.,Kwok Pui-Yan,Lansdorp Peter M.,Marth Gabor T.,Sebat Jonathan^ORCID,Shi Xinghua^ORCID,Bashir Ali,Ye Kai,Devine Scott E.,Talkowski Michael E.,Mills Ryan E.,Marschall Tobias^ORCID,Korbel Jan O.^ORCID,Eichler Evan E.^ORCID,Lee Charles

Publisher

Springer Science and Business Media LLC

Subject

General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry

Link

http://www.nature.com/articles/s41467-018-08148-z.pdf

Reference64 articles.

1. Conrad, D. F. et al. Origins and functional impact of copy number variation in the human genome. Nature 464, 704–712 (2010).

2. Kidd, J. M. et al. A human genome structural variation sequencing resource reveals insights into mutational mechanisms. Cell 143, 837–847 (2010).

3. Korbel, J. O. et al. Paired-end mapping reveals extensive structural variation in the human genome. Science 318, 420–426 (2007).

4. Sudmant, P. H. et al. An integrated map of structural variation in 2,504 human genomes. Nature 526, 75–81 (2015).

5. Kronenberg, Z. N. et al. Wham: identifying structural variants of biological consequence. PLoS Comput. Biol. 11, e1004572 (2015).

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