De novo assembly of a haplotype-resolved human genome
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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; Wang, Jun.
In: Nature Biotechnology, Vol. 33, No. 6, 2015, p. 617-626.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - De novo assembly of a haplotype-resolved human genome
AU - Cao, Hongzhi
AU - Wu, Honglong
AU - Luo, Ruibang
AU - Huang, Shujia
AU - Sun, Yuhui
AU - Tong, Xin
AU - Xie, Yinlong
AU - Liu, Binghang
AU - Yang, Hailong
AU - Zheng, Hancheng
AU - Li, Jian
AU - Li, Bo
AU - Wang, Yu
AU - Yang, Fang
AU - Sun, Peng
AU - Liu, Siyang
AU - Gao, Peng
AU - Huang, Haodong
AU - Sun, Jing
AU - Chen, Dan
AU - He, Guangzhu
AU - Huang, Weihua
AU - Huang, Zheng
AU - Li, Yue
AU - Tellier, Laurent C.A.M.
AU - Liu, Xiao
AU - Feng, Qiang
AU - Xu, Xun
AU - Zhang, Xiuqing
AU - Bolund, Lars
AU - Krogh, Anders
AU - Kristiansen, Karsten
AU - Drmanac, Radoje
AU - Drmanac, Snezana
AU - Nielsen, Rasmus
AU - Li, Songgang
AU - Wang, Jian
AU - Yang, Huanming
AU - Li, Yingrui
AU - Wong, Gane Ka-Shu
AU - Wang, Jun
PY - 2015
Y1 - 2015
N2 - 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.
AB - 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.
U2 - 10.1038/nbt.3200
DO - 10.1038/nbt.3200
M3 - Journal article
C2 - 26006006
VL - 33
SP - 617
EP - 626
JO - Nature Biotechnology
JF - Nature Biotechnology
SN - 1087-0156
IS - 6
ER -
ID: 138373867