Multi-platform discovery of haplotype-resolved structural variation in human genomes
Multi-platform discovery of haplotype-resolved structural variation in human genomes
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Author / Creator
Chaisson, Mark J. P. , Sanders, Ashley D. , Zhao, Xuefang , Malhotra, Ankit , Porubsky, David , Rausch, Tobias , Gardner, Eugene J. , Rodriguez, Oscar L. , Guo, Li , Collins, Ryan L. , Fan, Xian , Wen, Jia , Handsaker, Robert E. , Fairley, Susan , Kronenberg, Zev N. , Kong, Xiangmeng , Hormozdiari, Fereydoun , Lee, Dillon , Wenger, Aaron M. , Hastie, Alex R. , Antaki, Danny , Anantharaman, Thomas , Audano, Peter A. , Brand, Harrison , Cantsilieris, Stuart , Cao, Han , Cerveira, Eliza , Chen, Chong , Chen, Xintong , Chin, Chen-Shan , Chong, Zechen , Chuang, Nelson T. , Lambert, Christine C. , Church, Deanna M. , Clarke, Laura , Farrell, Andrew , Flores, Joey , Galeev, Timur , Gorkin, David U. , Gujral, Madhusudan , Guryev, Victor , Heaton, William Haynes , Korlach, Jonas , Kumar, Sushant , Kwon, Jee Young , Lam, Ernest T. , Lee, Jong Eun , Lee, Joyce , Lee, Wan-Ping , Lee, Sau Peng , Li, Shantao , Marks, Patrick , Viaud-Martinez, Karine , Meiers, Sascha , Munson, Katherine M. , Navarro, Fabio C. P. , Nelson, Bradley J. , Nodzak, Conor , Noor, Amina , Kyriazopoulou-Panagiotopoulou, Sofia , Pang, Andy W. C. , Qiu, Yunjiang , 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 , Yakneen, Sergei , McCarroll, Steven , Jun, Goo , Ding, Li , Koh, Chong Lek , Ren, Bing , Flicek, Paul , Chen, Ken , Gerstein, Mark B. , Kwok, Pui-Yan , Lansdorp, Peter M. , Marth, Gabor T. , Sebat, Jonathan , Shi, Xinghua , Bashir, Ali , Ye, Kai , Devine, Scott E. , Talkowski, Michael E. , Mills, Ryan E. , Marschall, Tobias , Korbel, Jan O. , Eichler, Evan E. and Lee, Charles
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
The incomplete identification of structural variants (SVs) from whole-genome sequencing data limits studies of human genetic diversity and disease association. Here, we apply a suite of long-read, short-read, strand-specific sequencing technologies, optical mapping, and variant discovery algorithms to comprehensively analyze three trios to define t...
Alternative Titles
Full title
Multi-platform discovery of haplotype-resolved structural variation in human genomes
Authors, Artists and Contributors
Author / Creator
Sanders, Ashley D.
Zhao, Xuefang
Malhotra, Ankit
Porubsky, David
Rausch, Tobias
Gardner, Eugene J.
Rodriguez, Oscar L.
Guo, Li
Collins, Ryan L.
Fan, Xian
Wen, Jia
Handsaker, Robert E.
Fairley, Susan
Kronenberg, Zev N.
Kong, Xiangmeng
Hormozdiari, Fereydoun
Lee, Dillon
Wenger, Aaron M.
Hastie, Alex R.
Antaki, Danny
Anantharaman, Thomas
Audano, Peter A.
Brand, Harrison
Cantsilieris, Stuart
Cao, Han
Cerveira, Eliza
Chen, Chong
Chen, Xintong
Chin, Chen-Shan
Chong, Zechen
Chuang, Nelson T.
Lambert, Christine C.
Church, Deanna M.
Clarke, Laura
Farrell, Andrew
Flores, Joey
Galeev, Timur
Gorkin, David U.
Gujral, Madhusudan
Guryev, Victor
Heaton, William Haynes
Korlach, Jonas
Kumar, Sushant
Kwon, Jee Young
Lam, Ernest T.
Lee, Jong Eun
Lee, Joyce
Lee, Wan-Ping
Lee, Sau Peng
Li, Shantao
Marks, Patrick
Viaud-Martinez, Karine
Meiers, Sascha
Munson, Katherine M.
Navarro, Fabio C. P.
Nelson, Bradley J.
Nodzak, Conor
Noor, Amina
Kyriazopoulou-Panagiotopoulou, Sofia
Pang, Andy W. C.
Qiu, Yunjiang
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
Yakneen, Sergei
McCarroll, Steven
Jun, Goo
Ding, Li
Koh, Chong Lek
Ren, Bing
Flicek, Paul
Chen, Ken
Gerstein, Mark B.
Kwok, Pui-Yan
Lansdorp, Peter M.
Marth, Gabor T.
Sebat, Jonathan
Shi, Xinghua
Bashir, Ali
Ye, Kai
Devine, Scott E.
Talkowski, Michael E.
Mills, Ryan E.
Marschall, Tobias
Korbel, Jan O.
Eichler, Evan E.
Lee, Charles
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_1bf8e1b79b09479e9b177f1082c620e1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1bf8e1b79b09479e9b177f1082c620e1
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-018-08148-z
