schliessen

Filtern

 

Bibliotheken

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 us... Full description

Journal Title: Nature 2008-11-06, Vol.456 (7218), p.60-65
Main Author: Wang, Jun
Other Authors: Wang, Wei , Li, Ruiqiang , Li, Yingrui , Tian, Geng , Goodman, Laurie , Fan, Wei , Zhang, Junqing , Li, Jun , Zhang, Juanbin , Guo, Yiran , Feng, Binxiao , Li, Heng , Lu, Yao , Fang, Xiaodong , Liang, Huiqing , Du, Zhenglin , Li, Dong , Zhao, Yiqing , Hu, Yujie , Yang, Zhenzhen , Zheng, Hancheng , Hellmann, Ines , Inouye, Michael , Pool, John , Yi, Xin , Zhao, Jing , Duan, Jinjie , Zhou, Yan , Qin, Junjie , Ma, Lijia , Li, Guoqing , Yang, Zhentao , Zhang, Guojie , Yang, Bin , Yu, Chang , Liang, Fang , Li, Wenjie , Li, Shaochuan , Li, Dawei , Ni, Peixiang , Ruan, Jue , Li, Qibin , Zhu, Hongmei , Liu, Dongyuan , Lu, Zhike , Li, Ning , Guo, Guangwu , Zhang, Jianguo , Ye, Jia , Fang, Lin , Hao, Qin , Chen, Quan , Liang, Yu , Su, Yeyang , San, A , Ping, Cuo , Yang, Shuang , Chen, Fang , Li, Li , Zhou, Ke , Zheng, Hongkun , Ren, Yuanyuan , Yang, Ling , Gao, Yang , Yang, Guohua , Li, Zhuo , Feng, Xiaoli , Kristiansen, Karsten , Wong, Gane Ka-Shu , Nielsen, Rasmus , Durbin, Richard , Bolund, Lars , Zhang, Xiuqing , Li, Songgang , Yang, Huanming , Wang, Jian
Format: Electronic Article Electronic Article
Language: English
Subjects:
Publisher: England: Nature Publishing Group
ID: ISSN: 0028-0836
Link: https://www.ncbi.nlm.nih.gov/pubmed/18987735
Zum Text:
SendSend as email Add to Book BagAdd to Book Bag
Staff View
recordid: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2716080
title: The diploid genome sequence of an Asian individual
format: Article
creator:
  • Wang, Jun
  • Wang, Wei
  • Li, Ruiqiang
  • Li, Yingrui
  • Tian, Geng
  • Goodman, Laurie
  • Fan, Wei
  • Zhang, Junqing
  • Li, Jun
  • Zhang, Juanbin
  • Guo, Yiran
  • Feng, Binxiao
  • Li, Heng
  • Lu, Yao
  • Fang, Xiaodong
  • Liang, Huiqing
  • Du, Zhenglin
  • Li, Dong
  • Zhao, Yiqing
  • Hu, Yujie
  • Yang, Zhenzhen
  • Zheng, Hancheng
  • Hellmann, Ines
  • Inouye, Michael
  • Pool, John
  • Yi, Xin
  • Zhao, Jing
  • Duan, Jinjie
  • Zhou, Yan
  • Qin, Junjie
  • Ma, Lijia
  • Li, Guoqing
  • Yang, Zhentao
  • Zhang, Guojie
  • Yang, Bin
  • Yu, Chang
  • Liang, Fang
  • Li, Wenjie
  • Li, Shaochuan
  • Li, Dawei
  • Ni, Peixiang
  • Ruan, Jue
  • Li, Qibin
  • Zhu, Hongmei
  • Liu, Dongyuan
  • Lu, Zhike
  • Li, Ning
  • Guo, Guangwu
  • Zhang, Jianguo
  • Ye, Jia
  • Fang, Lin
  • Hao, Qin
  • Chen, Quan
  • Liang, Yu
  • Su, Yeyang
  • San, A
  • Ping, Cuo
  • Yang, Shuang
  • Chen, Fang
  • Li, Li
  • Zhou, Ke
  • Zheng, Hongkun
  • Ren, Yuanyuan
  • Yang, Ling
  • Gao, Yang
  • Yang, Guohua
  • Li, Zhuo
  • Feng, Xiaoli
  • Kristiansen, Karsten
  • Wong, Gane Ka-Shu
  • Nielsen, Rasmus
  • Durbin, Richard
  • Bolund, Lars
  • Zhang, Xiuqing
  • Li, Songgang
  • Yang, Huanming
  • Wang, Jian
subjects:
  • Alleles
  • Animals
  • Article
  • Asian Continental Ancestry Group
  • Asian Continental Ancestry Group - genetics
  • Asians
  • Consensus Sequence
  • Data entry
  • Databases
  • Databases, Genetic
  • Diploidy
  • Genetic
  • Genetic aspects
  • Genetic Predisposition to Disease
  • Genetic Predisposition to Disease - genetics
  • Genetic research
  • Genome
  • Genome, Human - genetics
  • Genomics
  • Haplotypes
  • Haplotypes - genetics
  • Human
  • Humans
  • Internet
  • Methods
  • Models
  • Pan troglodytes
  • Pan troglodytes - genetics
  • Phenotype
  • Polymorphism
  • Polymorphism, Single Nucleotide - genetics
  • Sensitivity
  • Sensitivity and Specificity
  • Sequence Alignment
  • Single Nucleotide
  • Specificity
ispartof: Nature, 2008-11-06, Vol.456 (7218), p.60-65
description: 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.
language: eng
source:
identifier: ISSN: 0028-0836
fulltext: no_fulltext
issn:
  • 0028-0836
  • 1476-4687
  • 1476-4679
url: Link


@attributes
NO1
SEARCH_ENGINEprimo_central_multiple_fe
SEARCH_ENGINE_TYPEPrimo Central Search Engine
RANK2.7401114
LOCALfalse
PrimoNMBib
record
control
sourceidgale_pubme
recordidTN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2716080
sourceformatXML
sourcesystemPC
galeidA189000888
sourcerecordidA189000888
originalsourceidFETCH-LOGICAL-1781t-74e2d7ce0f5ad82f895a9e38a91cf6027811d536e9e1da7e4e53b291d683c5210
addsrcrecordideNqF0--L0zAYB_AiineevvK9DAVFZGeS5ucbYQx_DI4TdOLLkCZPdpEu6TXtqf-9GRu6yfQotDT95EuTPE9VPcboHKNavo5mGHtAgkp6pzrFVPAp5VLcrU4RInKKZM1Pqgc5f0MIMSzo_eoESyWFqNlpRZZXMHGha1NwkxXEtIZJhusRooVJ8hMTJ7Mcyj1EF26CG037sLrnTZvh0e55Vn1593Y5_zC9-Ph-MZ9dTLGQeJgKCsQJC8gz4yTxUjGjoJZGYes5IgVhx2oOCrAzAiiwuiEKOy5rywhGZ9WbbW43NmtwFuLQm1Z3fVib_qdOJujDLzFc6VW60URgjiQqAYttQOogmtDDwVwXYdDJ6RpxojkGX_7PNwKUoBaEMFYJVTdGOQd4k3V5W5YDN3b6u9cIYd1YZRgoKz2YRnDjSM2I5bS8e-OMLYEvdqvrU9nuPOh1yBba1kRIY9aC1qwcLyVFPv-v5EowSri6FWIllWKUF_hsC1emBR2iT2X_7AbrWSmNUidSyqKeHlG2C9d6H50fQeVysA42RfChjB-kvjyYUMwAP4aVGXPWi8-fDu2rf9vZ8uv88qi2fcq5B__7iDDSm07Re51S9JP96vpjd61RAP4rzobBDCFtii20R0N_AatNGzk
sourcetypeOpen Access Repository
isCDItrue
recordtypearticle
pqid19899546
display
typearticle
titleThe diploid genome sequence of an Asian individual
creatorWang, Jun ; Wang, Wei ; Li, Ruiqiang ; Li, Yingrui ; Tian, Geng ; Goodman, Laurie ; Fan, Wei ; Zhang, Junqing ; Li, Jun ; Zhang, Juanbin ; Guo, Yiran ; Feng, Binxiao ; Li, Heng ; Lu, Yao ; Fang, Xiaodong ; Liang, Huiqing ; Du, Zhenglin ; Li, Dong ; Zhao, Yiqing ; Hu, Yujie ; Yang, Zhenzhen ; Zheng, Hancheng ; Hellmann, Ines ; Inouye, Michael ; Pool, John ; Yi, Xin ; Zhao, Jing ; Duan, Jinjie ; Zhou, Yan ; Qin, Junjie ; Ma, Lijia ; Li, Guoqing ; Yang, Zhentao ; Zhang, Guojie ; Yang, Bin ; Yu, Chang ; Liang, Fang ; Li, Wenjie ; Li, Shaochuan ; Li, Dawei ; Ni, Peixiang ; Ruan, Jue ; Li, Qibin ; Zhu, Hongmei ; Liu, Dongyuan ; Lu, Zhike ; Li, Ning ; Guo, Guangwu ; Zhang, Jianguo ; Ye, Jia ; Fang, Lin ; Hao, Qin ; Chen, Quan ; Liang, Yu ; Su, Yeyang ; San, A ; Ping, Cuo ; Yang, Shuang ; Chen, Fang ; Li, Li ; Zhou, Ke ; Zheng, Hongkun ; Ren, Yuanyuan ; Yang, Ling ; Gao, Yang ; Yang, Guohua ; Li, Zhuo ; Feng, Xiaoli ; Kristiansen, Karsten ; Wong, Gane Ka-Shu ; Nielsen, Rasmus ; Durbin, Richard ; Bolund, Lars ; Zhang, Xiuqing ; Li, Songgang ; Yang, Huanming ; Wang, Jian
creatorcontribWang, Jun ; Wang, Wei ; Li, Ruiqiang ; Li, Yingrui ; Tian, Geng ; Goodman, Laurie ; Fan, Wei ; Zhang, Junqing ; Li, Jun ; Zhang, Juanbin ; Guo, Yiran ; Feng, Binxiao ; Li, Heng ; Lu, Yao ; Fang, Xiaodong ; Liang, Huiqing ; Du, Zhenglin ; Li, Dong ; Zhao, Yiqing ; Hu, Yujie ; Yang, Zhenzhen ; Zheng, Hancheng ; Hellmann, Ines ; Inouye, Michael ; Pool, John ; Yi, Xin ; Zhao, Jing ; Duan, Jinjie ; Zhou, Yan ; Qin, Junjie ; Ma, Lijia ; Li, Guoqing ; Yang, Zhentao ; Zhang, Guojie ; Yang, Bin ; Yu, Chang ; Liang, Fang ; Li, Wenjie ; Li, Shaochuan ; Li, Dawei ; Ni, Peixiang ; Ruan, Jue ; Li, Qibin ; Zhu, Hongmei ; Liu, Dongyuan ; Lu, Zhike ; Li, Ning ; Guo, Guangwu ; Zhang, Jianguo ; Ye, Jia ; Fang, Lin ; Hao, Qin ; Chen, Quan ; Liang, Yu ; Su, Yeyang ; San, A ; Ping, Cuo ; Yang, Shuang ; Chen, Fang ; Li, Li ; Zhou, Ke ; Zheng, Hongkun ; Ren, Yuanyuan ; Yang, Ling ; Gao, Yang ; Yang, Guohua ; Li, Zhuo ; Feng, Xiaoli ; Kristiansen, Karsten ; Wong, Gane Ka-Shu ; Nielsen, Rasmus ; Durbin, Richard ; Bolund, Lars ; Zhang, Xiuqing ; Li, Songgang ; Yang, Huanming ; Wang, Jian
descriptionHere 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.
identifier
0ISSN: 0028-0836
1EISSN: 1476-4687
2EISSN: 1476-4679
3DOI: 10.1038/nature07484
4PMID: 18987735
languageeng
publisherEngland: Nature Publishing Group
subjectAlleles ; Animals ; Article ; Asian Continental Ancestry Group ; Asian Continental Ancestry Group - genetics ; Asians ; Consensus Sequence ; Data entry ; Databases ; Databases, Genetic ; Diploidy ; Genetic ; Genetic aspects ; Genetic Predisposition to Disease ; Genetic Predisposition to Disease - genetics ; Genetic research ; Genome ; Genome, Human - genetics ; Genomics ; Haplotypes ; Haplotypes - genetics ; Human ; Humans ; Internet ; Methods ; Models ; Pan troglodytes ; Pan troglodytes - genetics ; Phenotype ; Polymorphism ; Polymorphism, Single Nucleotide - genetics ; Sensitivity ; Sensitivity and Specificity ; Sequence Alignment ; Single Nucleotide ; Specificity
ispartofNature, 2008-11-06, Vol.456 (7218), p.60-65
rights
0COPYRIGHT 2008 Nature Publishing Group
12008 Macmillan Publishers Limited. All rights reserved 2008
lds50peer_reviewed
oafree_for_read
citedbyFETCH-LOGICAL-1781t-74e2d7ce0f5ad82f895a9e38a91cf6027811d536e9e1da7e4e53b291d683c5210
citesFETCH-LOGICAL-1781t-74e2d7ce0f5ad82f895a9e38a91cf6027811d536e9e1da7e4e53b291d683c5210
links
openurl$$Topenurl_article
thumbnail$$Usyndetics_thumb_exl
backlink$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18987735$$D View this record in MEDLINE/PubMed
search
creatorcontrib
0Wang, Jun
1Wang, Wei
2Li, Ruiqiang
3Li, Yingrui
4Tian, Geng
5Goodman, Laurie
6Fan, Wei
7Zhang, Junqing
8Li, Jun
9Zhang, Juanbin
10Guo, Yiran
11Feng, Binxiao
12Li, Heng
13Lu, Yao
14Fang, Xiaodong
15Liang, Huiqing
16Du, Zhenglin
17Li, Dong
18Zhao, Yiqing
19Hu, Yujie
20Yang, Zhenzhen
21Zheng, Hancheng
22Hellmann, Ines
23Inouye, Michael
24Pool, John
25Yi, Xin
26Zhao, Jing
27Duan, Jinjie
28Zhou, Yan
29Qin, Junjie
30Ma, Lijia
31Li, Guoqing
32Yang, Zhentao
33Zhang, Guojie
34Yang, Bin
35Yu, Chang
36Liang, Fang
37Li, Wenjie
38Li, Shaochuan
39Li, Dawei
40Ni, Peixiang
41Ruan, Jue
42Li, Qibin
43Zhu, Hongmei
44Liu, Dongyuan
45Lu, Zhike
46Li, Ning
47Guo, Guangwu
48Zhang, Jianguo
49Ye, Jia
50Fang, Lin
51Hao, Qin
52Chen, Quan
53Liang, Yu
54Su, Yeyang
55San, A
56Ping, Cuo
57Yang, Shuang
58Chen, Fang
59Li, Li
60Zhou, Ke
61Zheng, Hongkun
62Ren, Yuanyuan
63Yang, Ling
64Gao, Yang
65Yang, Guohua
66Li, Zhuo
67Feng, Xiaoli
68Kristiansen, Karsten
69Wong, Gane Ka-Shu
70Nielsen, Rasmus
71Durbin, Richard
72Bolund, Lars
73Zhang, Xiuqing
74Li, Songgang
75Yang, Huanming
76Wang, Jian
title
0The diploid genome sequence of an Asian individual
1Nature
addtitleNature
descriptionHere 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.
subject
0Alleles
1Animals
2Article
3Asian Continental Ancestry Group
4Asian Continental Ancestry Group - genetics
5Asians
6Consensus Sequence
7Data entry
8Databases
9Databases, Genetic
10Diploidy
11Genetic
12Genetic aspects
13Genetic Predisposition to Disease
14Genetic Predisposition to Disease - genetics
15Genetic research
16Genome
17Genome, Human - genetics
18Genomics
19Haplotypes
20Haplotypes - genetics
21Human
22Humans
23Internet
24Methods
25Models
26Pan troglodytes
27Pan troglodytes - genetics
28Phenotype
29Polymorphism
30Polymorphism, Single Nucleotide - genetics
31Sensitivity
32Sensitivity and Specificity
33Sequence Alignment
34Single Nucleotide
35Specificity
issn
00028-0836
11476-4687
21476-4679
fulltextfalse
rsrctypearticle
creationdate2008
recordtypearticle
recordideNqF0--L0zAYB_AiineevvK9DAVFZGeS5ucbYQx_DI4TdOLLkCZPdpEu6TXtqf-9GRu6yfQotDT95EuTPE9VPcboHKNavo5mGHtAgkp6pzrFVPAp5VLcrU4RInKKZM1Pqgc5f0MIMSzo_eoESyWFqNlpRZZXMHGha1NwkxXEtIZJhusRooVJ8hMTJ7Mcyj1EF26CG037sLrnTZvh0e55Vn1593Y5_zC9-Ph-MZ9dTLGQeJgKCsQJC8gz4yTxUjGjoJZGYes5IgVhx2oOCrAzAiiwuiEKOy5rywhGZ9WbbW43NmtwFuLQm1Z3fVib_qdOJujDLzFc6VW60URgjiQqAYttQOogmtDDwVwXYdDJ6RpxojkGX_7PNwKUoBaEMFYJVTdGOQd4k3V5W5YDN3b6u9cIYd1YZRgoKz2YRnDjSM2I5bS8e-OMLYEvdqvrU9nuPOh1yBba1kRIY9aC1qwcLyVFPv-v5EowSri6FWIllWKUF_hsC1emBR2iT2X_7AbrWSmNUidSyqKeHlG2C9d6H50fQeVysA42RfChjB-kvjyYUMwAP4aVGXPWi8-fDu2rf9vZ8uv88qi2fcq5B__7iDDSm07Re51S9JP96vpjd61RAP4rzobBDCFtii20R0N_AatNGzk
startdate20081106
enddate20081106
creator
0Wang, Jun
1Wang, Wei
2Li, Ruiqiang
3Li, Yingrui
4Tian, Geng
5Goodman, Laurie
6Fan, Wei
7Zhang, Junqing
8Li, Jun
9Zhang, Juanbin
10Guo, Yiran
11Feng, Binxiao
12Li, Heng
13Lu, Yao
14Fang, Xiaodong
15Liang, Huiqing
16Du, Zhenglin
17Li, Dong
18Zhao, Yiqing
19Hu, Yujie
20Yang, Zhenzhen
21Zheng, Hancheng
22Hellmann, Ines
23Inouye, Michael
24Pool, John
25Yi, Xin
26Zhao, Jing
27Duan, Jinjie
28Zhou, Yan
29Qin, Junjie
30Ma, Lijia
31Li, Guoqing
32Yang, Zhentao
33Zhang, Guojie
34Yang, Bin
35Yu, Chang
36Liang, Fang
37Li, Wenjie
38Li, Shaochuan
39Li, Dawei
40Ni, Peixiang
41Ruan, Jue
42Li, Qibin
43Zhu, Hongmei
44Liu, Dongyuan
45Lu, Zhike
46Li, Ning
47Guo, Guangwu
48Zhang, Jianguo
49Ye, Jia
50Fang, Lin
51Hao, Qin
52Chen, Quan
53Liang, Yu
54Su, Yeyang
55San, A
56Ping, Cuo
57Yang, Shuang
58Chen, Fang
59Li, Li
60Zhou, Ke
61Zheng, Hongkun
62Ren, Yuanyuan
63Yang, Ling
64Gao, Yang
65Yang, Guohua
66Li, Zhuo
67Feng, Xiaoli
68Kristiansen, Karsten
69Wong, Gane Ka-Shu
70Nielsen, Rasmus
71Durbin, Richard
72Bolund, Lars
73Zhang, Xiuqing
74Li, Songgang
75Yang, Huanming
76Wang, Jian
generalNature Publishing Group
scope
0CGR
1CUY
2CVF
3ECM
4EIF
5NPM
6AAYXX
7CITATION
87TM
98FD
10FR3
11P64
12RC3
137X8
147SC
157SP
167SR
177TB
187U5
198BQ
20F28
21JG9
22JQ2
23KR7
24L7M
25L~C
26L~D
27BOBZL
28CLFQK
295PM
sort
creationdate20081106
titleThe diploid genome sequence of an Asian individual
authorWang, Jun ; Wang, Wei ; Li, Ruiqiang ; Li, Yingrui ; Tian, Geng ; Goodman, Laurie ; Fan, Wei ; Zhang, Junqing ; Li, Jun ; Zhang, Juanbin ; Guo, Yiran ; Feng, Binxiao ; Li, Heng ; Lu, Yao ; Fang, Xiaodong ; Liang, Huiqing ; Du, Zhenglin ; Li, Dong ; Zhao, Yiqing ; Hu, Yujie ; Yang, Zhenzhen ; Zheng, Hancheng ; Hellmann, Ines ; Inouye, Michael ; Pool, John ; Yi, Xin ; Zhao, Jing ; Duan, Jinjie ; Zhou, Yan ; Qin, Junjie ; Ma, Lijia ; Li, Guoqing ; Yang, Zhentao ; Zhang, Guojie ; Yang, Bin ; Yu, Chang ; Liang, Fang ; Li, Wenjie ; Li, Shaochuan ; Li, Dawei ; Ni, Peixiang ; Ruan, Jue ; Li, Qibin ; Zhu, Hongmei ; Liu, Dongyuan ; Lu, Zhike ; Li, Ning ; Guo, Guangwu ; Zhang, Jianguo ; Ye, Jia ; Fang, Lin ; Hao, Qin ; Chen, Quan ; Liang, Yu ; Su, Yeyang ; San, A ; Ping, Cuo ; Yang, Shuang ; Chen, Fang ; Li, Li ; Zhou, Ke ; Zheng, Hongkun ; Ren, Yuanyuan ; Yang, Ling ; Gao, Yang ; Yang, Guohua ; Li, Zhuo ; Feng, Xiaoli ; Kristiansen, Karsten ; Wong, Gane Ka-Shu ; Nielsen, Rasmus ; Durbin, Richard ; Bolund, Lars ; Zhang, Xiuqing ; Li, Songgang ; Yang, Huanming ; Wang, Jian
facets
frbrtype5
frbrgroupidcdi_FETCH-LOGICAL-1781t-74e2d7ce0f5ad82f895a9e38a91cf6027811d536e9e1da7e4e53b291d683c5210
rsrctypearticles
prefilterarticles
languageeng
creationdate2008
topic
0Alleles
1Animals
2Article
3Asian Continental Ancestry Group
4Asian Continental Ancestry Group - genetics
5Asians
6Consensus Sequence
7Data entry
8Databases
9Databases, Genetic
10Diploidy
11Genetic
12Genetic aspects
13Genetic Predisposition to Disease
14Genetic Predisposition to Disease - genetics
15Genetic research
16Genome
17Genome, Human - genetics
18Genomics
19Haplotypes
20Haplotypes - genetics
21Human
22Humans
23Internet
24Methods
25Models
26Pan troglodytes
27Pan troglodytes - genetics
28Phenotype
29Polymorphism
30Polymorphism, Single Nucleotide - genetics
31Sensitivity
32Sensitivity and Specificity
33Sequence Alignment
34Single Nucleotide
35Specificity
toplevelpeer_reviewed
creatorcontrib
0Wang, Jun
1Wang, Wei
2Li, Ruiqiang
3Li, Yingrui
4Tian, Geng
5Goodman, Laurie
6Fan, Wei
7Zhang, Junqing
8Li, Jun
9Zhang, Juanbin
10Guo, Yiran
11Feng, Binxiao
12Li, Heng
13Lu, Yao
14Fang, Xiaodong
15Liang, Huiqing
16Du, Zhenglin
17Li, Dong
18Zhao, Yiqing
19Hu, Yujie
20Yang, Zhenzhen
21Zheng, Hancheng
22Hellmann, Ines
23Inouye, Michael
24Pool, John
25Yi, Xin
26Zhao, Jing
27Duan, Jinjie
28Zhou, Yan
29Qin, Junjie
30Ma, Lijia
31Li, Guoqing
32Yang, Zhentao
33Zhang, Guojie
34Yang, Bin
35Yu, Chang
36Liang, Fang
37Li, Wenjie
38Li, Shaochuan
39Li, Dawei
40Ni, Peixiang
41Ruan, Jue
42Li, Qibin
43Zhu, Hongmei
44Liu, Dongyuan
45Lu, Zhike
46Li, Ning
47Guo, Guangwu
48Zhang, Jianguo
49Ye, Jia
50Fang, Lin
51Hao, Qin
52Chen, Quan
53Liang, Yu
54Su, Yeyang
55San, A
56Ping, Cuo
57Yang, Shuang
58Chen, Fang
59Li, Li
60Zhou, Ke
61Zheng, Hongkun
62Ren, Yuanyuan
63Yang, Ling
64Gao, Yang
65Yang, Guohua
66Li, Zhuo
67Feng, Xiaoli
68Kristiansen, Karsten
69Wong, Gane Ka-Shu
70Nielsen, Rasmus
71Durbin, Richard
72Bolund, Lars
73Zhang, Xiuqing
74Li, Songgang
75Yang, Huanming
76Wang, Jian
collection
0Medline
1MEDLINE
2MEDLINE (Ovid)
3MEDLINE
4MEDLINE
5PubMed
6CrossRef
7Nucleic Acids Abstracts
8Technology Research Database
9Engineering Research Database
10Biotechnology and BioEngineering Abstracts
11Genetics Abstracts
12MEDLINE - Academic
13Computer and Information Systems Abstracts
14Electronics & Communications Abstracts
15Engineered Materials Abstracts
16Mechanical & Transportation Engineering Abstracts
17Solid State and Superconductivity Abstracts
18METADEX
19ANTE: Abstracts in New Technology & Engineering
20Materials Research Database
21ProQuest Computer Science Collection
22Civil Engineering Abstracts
23Advanced Technologies Database with Aerospace
24Computer and Information Systems Abstracts – Academic
25Computer and Information Systems Abstracts Professional
26OpenAIRE (Open Access)
27OpenAIRE
28PubMed Central (Full Participant titles)
jtitleNature
delivery
delcategoryRemote Search Resource
fulltextno_fulltext
addata
au
0Wang, Jun
1Wang, Wei
2Li, Ruiqiang
3Li, Yingrui
4Tian, Geng
5Goodman, Laurie
6Fan, Wei
7Zhang, Junqing
8Li, Jun
9Zhang, Juanbin
10Guo, Yiran
11Feng, Binxiao
12Li, Heng
13Lu, Yao
14Fang, Xiaodong
15Liang, Huiqing
16Du, Zhenglin
17Li, Dong
18Zhao, Yiqing
19Hu, Yujie
20Yang, Zhenzhen
21Zheng, Hancheng
22Hellmann, Ines
23Inouye, Michael
24Pool, John
25Yi, Xin
26Zhao, Jing
27Duan, Jinjie
28Zhou, Yan
29Qin, Junjie
30Ma, Lijia
31Li, Guoqing
32Yang, Zhentao
33Zhang, Guojie
34Yang, Bin
35Yu, Chang
36Liang, Fang
37Li, Wenjie
38Li, Shaochuan
39Li, Dawei
40Ni, Peixiang
41Ruan, Jue
42Li, Qibin
43Zhu, Hongmei
44Liu, Dongyuan
45Lu, Zhike
46Li, Ning
47Guo, Guangwu
48Zhang, Jianguo
49Ye, Jia
50Fang, Lin
51Hao, Qin
52Chen, Quan
53Liang, Yu
54Su, Yeyang
55San, A
56Ping, Cuo
57Yang, Shuang
58Chen, Fang
59Li, Li
60Zhou, Ke
61Zheng, Hongkun
62Ren, Yuanyuan
63Yang, Ling
64Gao, Yang
65Yang, Guohua
66Li, Zhuo
67Feng, Xiaoli
68Kristiansen, Karsten
69Wong, Gane Ka-Shu
70Nielsen, Rasmus
71Durbin, Richard
72Bolund, Lars
73Zhang, Xiuqing
74Li, Songgang
75Yang, Huanming
76Wang, Jian
formatjournal
genrearticle
ristypeJOUR
atitleThe diploid genome sequence of an Asian individual
jtitleNature
addtitleNature
date2008-11-06
risdate2008
volume456
issue7218
spage60
epage65
pages60-65
issn0028-0836
eissn
01476-4687
11476-4679
notes
0These authors contributed equally to this work.
1Author Contributions Ju.W., W.W., R.L. and Yi.L. contributed equally to this work. Ju.W., H.Y. and Ji.W. managed the project. W.W., G.T., Jun.Z., Jua.Z., Ya.L., Hu.L., Yi.Z., Zhenz.Y., X.Y., B.Y., W.L., Da.L., Q.H., Yu.L., S.Y., F.C., L.L., K.Z., Y.R., L.Y., Y.G., G.Y., Zhu.L., Xiaol.F., K.K., L.B. and X.Z. performed sequencing. Ju.W., R.L. and Yi.L. designed the analyses. R.L., Yi.L., W.F., J.L., Y.G., B.F., He.L., Xiaod.F., Z.D., Dong Li, Y.H., H.Z., I.H., M.I., J.P., Jin.Z., J.D., Ya.Z., J.Q., L.M., G.L., Zhent.Y., G.Z., C.Y., F.L, S.L, P.N., J.R., Q.L., Hongm.Z., Dongy.L, Zhi.L., N.L., G.G., Jia.Z., J.Y., L.F., Q.C., Y.S., A S., C.P., Hongk.Z., G.W., R.N., R.D. and S.L. performed the data analyses. Ju.W., R.L., Yi.L. and L.G. wrote the paper.
2Author Information The data have been deposited in the EBI/NCBI short read archive (accession number ERA000005). These data, together with all the associated analyses, are freely availably at http://yh.genomics.org.cn. SNPs and indels have been submitted to NCBI dbSNP and will be available in dbSNP version 130. Reprints and permissions information is available at www.nature.com/reprints. This paper is distributed under the terms of the Creative Commons Attribution-Non-Commercial-Share Alike licence, and is freely available to all readers at www.nature.com/nature.
abstractHere 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.
copEngland
pubNature Publishing Group
pmid18987735
doi10.1038/nature07484
tpages7
oafree_for_read