학술논문
Multi-platform discovery of haplotype-resolved structural variation in human genomes.
Document Type
article
Author
Chaisson, Mark JP; 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 CP; Nelson, Bradley J; Nodzak, Conor; Noor, Amina; Kyriazopoulou-Panagiotopoulou, Sofia; Pang, Andy WC; Qiu, Yunjiang; Rosanio, Gabriel; Ryan, Mallory; Stütz, Adrian; Spierings, Diana CJ; 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
Source
Nature communications. 10(1)
Subject
Language
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 (