The diploid genome sequence of an Asian individual.
Here we present the first diploid genome sequence of an Asian individual. The genome was sequenced to 36-fold average coverage using massively parallel sequencing technology. We aligned the short reads onto the NCBI human reference genome to 99.97% coverage, and guided by the reference genome, we used uniquely mapped reads to assemble a high-quality consensus sequence for 92% of the Asian individual's genome. We identified approximately 3 million single-nucleotide polymorphisms (SNPs) inside this region, of which 13.6% were not in the dbSNP database. Genotyping analysis showed that SNP identification had high accuracy and consistency, indicating the high sequence quality of this assembly. We also carried out heterozygote phasing and haplotype prediction against HapMap CHB and JPT haplotypes (Chinese and Japanese, respectively), sequence comparison with the two available individual genomes (J. D. Watson and J. C. Venter), and structural variation identification. These variations were considered for their potential biological impact. Our sequence data and analyses demonstrate the potential usefulness of next-generation sequencing technologies for personal genomics.
Wang
Jun
J
Beijing Genomics Institute at Shenzhen, Shenzhen 518000, China. wangj@genomics.org.cn
Wang
Wei
W
Li
Ruiqiang
R
Li
Yingrui
Y
Tian
Geng
G
Goodman
Laurie
L
Fan
Wei
W
Zhang
Junqing
J
Li
Jun
J
Zhang
Juanbin
J
Guo
Yiran
Y
Feng
Binxiao
B
Li
Heng
H
Lu
Yao
Y
Fang
Xiaodong
X
Liang
Huiqing
H
Du
Zhenglin
Z
Li
Dong
D
Zhao
Yiqing
Y
Hu
Yujie
Y
Yang
Zhenzhen
Z
Zheng
Hancheng
H
Hellmann
Ines
I
Inouye
Michael
M
Pool
John
J
Yi
Xin
X
Zhao
Jing
J
Duan
Jinjie
J
Zhou
Yan
Y
Qin
Junjie
J
Ma
Lijia
L
Li
Guoqing
G
Yang
Zhentao
Z
Zhang
Guojie
G
Yang
Bin
B
Yu
Chang
C
Liang
Fang
F
Li
Wenjie
W
Li
Shaochuan
S
Li
Dawei
D
Ni
Peixiang
P
Ruan
Jue
J
Li
Qibin
Q
Zhu
Hongmei
H
Liu
Dongyuan
D
Lu
Zhike
Z
Li
Ning
N
Guo
Guangwu
G
Zhang
Jianguo
J
Ye
Jia
J
Fang
Lin
L
Hao
Qin
Q
Chen
Quan
Q
Liang
Yu
Y
Su
Yeyang
Y
San
A
A
Ping
Cuo
C
Yang
Shuang
S
Chen
Fang
F
Li
Li
L
Zhou
Ke
K
Zheng
Hongkun
H
Ren
Yuanyuan
Y
Yang
Ling
L
Gao
Yang
Y
Yang
Guohua
G
Li
Zhuo
Z
Feng
Xiaoli
X
Kristiansen
Karsten
K
Wong
Gane Ka-Shu
GK
Nielsen
Rasmus
R
Durbin
Richard
R
Bolund
Lars
L
Zhang
Xiuqing
X
Li
Songgang
S
Yang
Huanming
H
Wang
Jian
J
D000483:Alleles; D000818:Animals; D044466:Asian People / Q000235:genetics*; D016384:Consensus Sequence; D030541:Databases, Genetic; D004171:Diploidy; D020022:Genetic Predisposition to Disease / Q000235:genetics; D015894:Genome, Human / Q000235:genetics*; D023281:Genomics; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D020407:Internet; D002679:Pan troglodytes / Q000235:genetics; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012680:Sensitivity and Specificity; D016415:Sequence Alignment