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Nature Biotechnology

De novo assembly of a haplotype-resolved human genome

Hongzhi Cao, Honglong Wu, Ruibang Luo, Shujia Huang, Yuhui Sun, Xin Tong, Yinlong Xie, Binghang Liu, Hailong Yang, Hancheng Zheng, Jian Li, Bo Li, Yu Wang, Fang Yang, Peng Sun, Siyang Liu, Peng Gao, Haodong Huang, Jing Sun, Dan Chen, Guangzhu He, Weihua Huang, Zheng Huang, Yue Li, Laurent C A M Tellier, Xiao Liu, Qiang Feng, Xun Xu, Xiuqing Zhang, Lars Bolund, Anders Krogh, Karsten Kristiansen, Radoje Drmanac, Snezana Drmanac, Rasmus Nielsen, Songgang Li, Jian Wang, Huanming Yang, Yingrui Li, Gane Ka-Shu Wong, Jun Wang.
A human genome resolved at the haplotype level without a reference genome reveals previously undetected sequences.