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doi:10.22028/D291-28705
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 http://dx.doi.org/10.22028/D291-28705 |
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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