Please use this identifier to cite or link to this item: doi:10.22028/D291-28705
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Title: Multi-platform discovery of haplotype-resolved structural variation in human genomes
Author(s): 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.
Lee, Charles
Language: English
Title: Nature Communications
Volume: 10
Issue: 1
Startpage: 1784
Publisher/Platform: Nature Publishing Group UK
Year of Publication: 2019
Publikation type: Journal Article
Abstract: 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 the full spectrum of human genetic variation in a haplotype-resolved manner. We identify 818,054 indel variants (<50 bp) and 27,622 SVs (≥50 bp) per genome. We also discover 156 inversions per genome and 58 of the inversions intersect with the critical regions of recurrent microdeletion and microduplication syndromes. Taken together, our SV callsets represent a three to sevenfold increase in SV detection compared to most standard high-throughput sequencing studies, including those from the 1000 Genomes Project. The methods and the dataset presented serve as a gold standard for the scientific community allowing us to make recommendations for maximizing structural variation sensitivity for future genome sequencing studies.
DOI of the first publication: 10.1038/s41467-018-08148-z
Link to this record: hdl:20.500.11880/27708
ISSN: 2041-1723
Date of registration: 7-Sep-2019
Faculty: MI - Fakultät für Mathematik und Informatik
Department: MI - Informatik
Professorship: MI - Prof. Dr. Tobias Marschall
Collections:SciDok - Der Wissenschaftsserver der Universität des Saarlandes

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