| Literature DB >> 26006006 |
Hongzhi Cao1, Honglong Wu2, Ruibang Luo3, Shujia Huang4, Yuhui Sun4, Xin Tong5, Yinlong Xie6, Binghang Liu3, Hailong Yang5, Hancheng Zheng7, Jian Li7, Bo Li5, Yu Wang4, Fang Yang5, Peng Sun5, Siyang Liu7, Peng Gao5, Haodong Huang4, Jing Sun5, Dan Chen5, Guangzhu He5, Weihua Huang5, Zheng Huang5, Yue Li5, Laurent C A M Tellier7, Xiao Liu7, Qiang Feng7, Xun Xu5, Xiuqing Zhang5, Lars Bolund8, Anders Krogh9, Karsten Kristiansen7, Radoje Drmanac10, Snezana Drmanac10, Rasmus Nielsen11, Songgang Li5, Jian Wang12, Huanming Yang13, Yingrui Li14, Gane Ka-Shu Wong15, Jun Wang16.
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.Entities:
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Year: 2015 PMID： 26006006 DOI： 10.1038/nbt.3200
Source DB: PubMed Journal: Nat Biotechnol ISSN： 1087-0156 Impact factor: 54.908