De novo assembly of a haplotype-resolved human genome

Cao, Hongzhi, Wu, Honglong, Luo, Ruibang, Huang, Shujia, Sun, Yuhui, Tong, Xin, Xie, Yinlong, Liu, Binghang, Yang, Hailong, Zheng, Hancheng, Li, Jian, Li, Bo, Wang, Yu, Yang, Fang, Sun, Peng, Liu, Siyang, Gao, Peng, Huang, Haodong, Sun, Jing, Chen, Dan, He, Guangzhu, Huang, Weihua, Huang, Zheng, Li, Yue, Tellier, Laurent C. A. M., Liu, Xiao, Feng, Qiang, Xu, Xun, Zhang, Xiuqing, Bolund, Lars, Krogh, Anders, Kristiansen, Karsten, Drmanac, Radoje, Drmanac, Snezana, Nielsen, Rasmus, Li, Songgang, Wang, Jian, Yang, Huanming, Li, Yingrui, Wong, Gane Ka-Shu and Wang, Jun (2015) De novo assembly of a haplotype-resolved human genome. Nature Biotechnology, 33 6: 617-622. doi:10.1038/nbt.3200

Author Cao, Hongzhi
Wu, Honglong
Luo, Ruibang
Huang, Shujia
Sun, Yuhui
Tong, Xin
Xie, Yinlong
Liu, Binghang
Yang, Hailong
Zheng, Hancheng
Li, Jian
Li, Bo
Wang, Yu
Yang, Fang
Sun, Peng
Liu, Siyang
Gao, Peng
Huang, Haodong
Sun, Jing
Chen, Dan
He, Guangzhu
Huang, Weihua
Huang, Zheng
Li, Yue
Tellier, Laurent C. A. M.
Liu, Xiao
Feng, Qiang
Xu, Xun
Zhang, Xiuqing
Bolund, Lars
Krogh, Anders
Kristiansen, Karsten
Drmanac, Radoje
Drmanac, Snezana
Nielsen, Rasmus
Li, Songgang
Wang, Jian
Yang, Huanming
Li, Yingrui
Wong, Gane Ka-Shu
Wang, Jun
Title De novo assembly of a haplotype-resolved human genome
Formatted title
De novo assembly of a haplotype-resolved human genome
Journal name Nature Biotechnology   Check publisher's open access policy
ISSN 1546-1696
Publication date 2015-06
Sub-type Article (original research)
DOI 10.1038/nbt.3200
Open Access Status
Volume 33
Issue 6
Start page 617
End page 622
Total pages 6
Place of publication New York, United States
Publisher Nature Publishing Group
Collection year 2016
Language eng
Formatted abstract
The human genome is diploid, and knowledge of the variants on each chromosome is important for the interpretation of genomic information. Here we report the assembly of a haplotype-resolved diploid genome without using a reference genome. Our pipeline relies on fosmid pooling together with whole-genome shotgun strategies, based solely on next-generation sequencing and hierarchical assembly methods. We applied our sequencing method to the genome of an Asian individual and generated a 5.15-Gb assembled genome with a haplotype N50 of 484 kb. Our analysis identified previously undetected indels and 7.49 Mb of novel coding sequences that could not be aligned to the human reference genome, which include at least six predicted genes. This haplotype-resolved genome represents the most complete de novo human genome assembly to date. Application of our approach to identify individual haplotype differences should aid in translating genotypes to phenotypes for the development of personalized medicine.
Keyword Human genome
De novo
Coding sequences
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2016 Collection
Institute for Molecular Bioscience - Publications
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Citation counts: TR Web of Science Citation Count  Cited 7 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 7 times in Scopus Article | Citations
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