schliessen

Filtern

 

Bibliotheken

A second generation human haplotype map of over 3.1 million SNPs

We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and includes 25-35% of common SNP variation in the populations surveyed. The map is estimated to capture untype... Full description

Journal Title: Nature 2007-10-18, Vol.449 (7164), p.851-861
Main Author: Cox, David R
Other Authors: Stuve, Laura L , Gibbs, Richard A , Belmont, John W , Boudreau, Andrew , Leal, Suzanne M , Wheeler, David A , Yu, Fuli , Zeng, Changqing , Gao, Yang , Hu, Weitao , Pan, Hao , Tang, Xiaoli , Wang, Jian , Zhang, Qingrun , Barry, Rachel , Faggart, Maura , Gupta, Supriya , Moore, Jamie , Roy, Jessica , Winchester, Ellen , Altshuler, David , Shen, Yan , Huang, Wei , Liu, Yangfan , Wang, Haifeng , Xu, Liang , Murray, Sarah S , Montpetit, Alexandre , Chagnon, Fanny , Ferretti, Vincent , Leboeuf, Martin , Olivier, Jean-François , Phillips, Michael S , Koboldt, Daniel C , Kitamoto, Takuya , Ohnishi, Yozo , Sekine, Akihiro , Hunt, Sarah , Morrison, Jonathan , Powell, Don , Stranger, Barbara E , Bentley, David R , de Bakker, Paul I W , Chretien, Yves R , McCarroll, Steve , Schaffner, Stephen F , Sham, Pak C , Varilly, Patrick , Krishnan, Lalitha , Smith, Albert Vernon , Tello-Ruiz, Marcela K , Chen, Peter E , Kashuk, Carl S , Lin, Shin , Abecasis, Gonçalo R , McVean, Gilean , Bottolo, Leonardo , Cardin, Niall , Eyheramendy, Susana , Spencer, Chris , Stephens, Matthew , Clarke, Geraldine , Morris, Andrew P , Weir, Bruce S , Mullikin, James C , Matsuda, Ichiro , Fukushima, Yoshimitsu , Suda, Eiko , Adebamowo, Clement A , Marshall, Patricia A , Royal, Charmaine D M , Kato, Kazuto , Adewole, Isaac F , Knoppers, Bartha M , Foster, Morris W , Clayton, Ellen Wright , Muzny, Donna , Sodergren, Erica , Yakub, Imtaz , Fulton, Lucinda L , Rogers, Jane , Carter, Nigel P , Griffiths, Mark , Jones, Matthew C , Ross, Mark T , Sims, Sarah K , Chen, Zhu , Han, Hua , Kang, Le , Godbout, Martin , Wallenburg, John C , Wang, Hongguang , Wang, Renwu , Guyer, Mark S , Peterson, Jane L , Spiegel, Jack , Collins, Francis S , Kennedy, Karen , Stewart, John
Format: Electronic Article Electronic Article
Language: English
Subjects:
Publisher: London: Nature Publishing
ID: ISSN: 0028-0836
Zum Text:
SendSend as email Add to Book BagAdd to Book Bag
Staff View
recordid: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2689609
title: A second generation human haplotype map of over 3.1 million SNPs
format: Article
creator:
  • Cox, David R
  • Stuve, Laura L
  • Gibbs, Richard A
  • Belmont, John W
  • Boudreau, Andrew
  • Leal, Suzanne M
  • Wheeler, David A
  • Yu, Fuli
  • Zeng, Changqing
  • Gao, Yang
  • Hu, Weitao
  • Pan, Hao
  • Tang, Xiaoli
  • Wang, Jian
  • Zhang, Qingrun
  • Barry, Rachel
  • Faggart, Maura
  • Gupta, Supriya
  • Moore, Jamie
  • Roy, Jessica
  • Winchester, Ellen
  • Altshuler, David
  • Shen, Yan
  • Huang, Wei
  • Liu, Yangfan
  • Wang, Haifeng
  • Xu, Liang
  • Murray, Sarah S
  • Montpetit, Alexandre
  • Chagnon, Fanny
  • Ferretti, Vincent
  • Leboeuf, Martin
  • Olivier, Jean-François
  • Phillips, Michael S
  • Koboldt, Daniel C
  • Kitamoto, Takuya
  • Ohnishi, Yozo
  • Sekine, Akihiro
  • Hunt, Sarah
  • Morrison, Jonathan
  • Powell, Don
  • Stranger, Barbara E
  • Bentley, David R
  • de Bakker, Paul I W
  • Chretien, Yves R
  • McCarroll, Steve
  • Schaffner, Stephen F
  • Sham, Pak C
  • Varilly, Patrick
  • Krishnan, Lalitha
  • Smith, Albert Vernon
  • Tello-Ruiz, Marcela K
  • Chen, Peter E
  • Kashuk, Carl S
  • Lin, Shin
  • Abecasis, Gonçalo R
  • McVean, Gilean
  • Bottolo, Leonardo
  • Cardin, Niall
  • Eyheramendy, Susana
  • Spencer, Chris
  • Stephens, Matthew
  • Clarke, Geraldine
  • Morris, Andrew P
  • Weir, Bruce S
  • Mullikin, James C
  • Matsuda, Ichiro
  • Fukushima, Yoshimitsu
  • Suda, Eiko
  • Adebamowo, Clement A
  • Marshall, Patricia A
  • Royal, Charmaine D M
  • Kato, Kazuto
  • Adewole, Isaac F
  • Knoppers, Bartha M
  • Foster, Morris W
  • Clayton, Ellen Wright
  • Muzny, Donna
  • Sodergren, Erica
  • Yakub, Imtaz
  • Fulton, Lucinda L
  • Rogers, Jane
  • Carter, Nigel P
  • Griffiths, Mark
  • Jones, Matthew C
  • Ross, Mark T
  • Sims, Sarah K
  • Chen, Zhu
  • Han, Hua
  • Kang, Le
  • Godbout, Martin
  • Wallenburg, John C
  • Wang, Hongguang
  • Wang, Renwu
  • Guyer, Mark S
  • Peterson, Jane L
  • Spiegel, Jack
  • Collins, Francis S
  • Kennedy, Karen
  • Stewart, John
subjects:
  • Article
  • Biological and medical sciences
  • Classical genetics, quantitative genetics, hybrids
  • Continental Population Groups - genetics
  • Female
  • Fundamental and applied biological sciences. Psychology
  • Genetic research
  • Genetics of eukaryotes. Biological and molecular evolution
  • Haplotypes
  • Haplotypes - genetics
  • Homozygote
  • Human
  • Humans
  • Linkage Disequilibrium - genetics
  • Male
  • Methods
  • Polymorphism, Single Nucleotide - genetics
  • Recombination, Genetic - genetics
  • Selection, Genetic
  • Single nucleotide polymorphisms
ispartof: Nature, 2007-10-18, Vol.449 (7164), p.851-861
description: We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and includes 25-35% of common SNP variation in the populations surveyed. The map is estimated to capture untyped common variation with an average maximum r2 of between 0.9 and 0.96 depending on population. We demonstrate that the current generation of commercial genome-wide genotyping products captures common Phase II SNPs with an average maximum r2 of up to 0.8 in African and up to 0.95 in non-African populations, and that potential gains in power in association studies can be obtained through imputation. These data also reveal novel aspects of the structure of linkage disequilibrium. We show that 10-30% of pairs of individuals within a population share at least one region of extended genetic identity arising from recent ancestry and that up to 1% of all common variants are untaggable, primarily because they lie within recombination hotspots. We show that recombination rates vary systematically around genes and between genes of different function. Finally, we demonstrate increased differentiation at non-synonymous, compared to synonymous, SNPs, resulting from systematic differences in the strength or efficacy of natural selection between populations.
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
RANK2.7590716
LOCALfalse
PrimoNMBib
record
control
sourceidgale_pubme
recordidTN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2689609
sourceformatXML
sourcesystemPC
galeidA189748791
sourcerecordidA189748791
originalsourceidFETCH-LOGICAL-1797t-519e9305cbdadf6f2fa98762564c9da586abe4a20e283d6386fcbca2a726f6480
addsrcrecordideNqNk1trE0EUgBdRbKw--S6roiCSOLedy4sYgtpCqWIrPg4nc0lHdne2O5ti_70TE9pEUpSBHZj9zndmDucUxVOMJhhR-a6FYdk7xEkl7xUjzAQfMy7F_WKEEJFjJCk_KB6l9BMhVGHBHhYHWChGMSGj4sO0TM7E1pYL17oehhDb8mLZQP5CV8fhunNlA10ZfRmvXF_SCS6bUNcr7uz0a3pcPPBQJ_dksx8W3z99PJ8djU--fD6eTU_GOZcYxhVWTlFUmbkF67knHpQU-c6cGWWhkhzmjgFBjkhqOZXcm7kBAoJwz5lEh8X7tbdbzhtnjWuHHmrd9aGB_lpHCHr3Txsu9CJeacKl4khlwdFaEDvXQujdTqxt3aCj1YpjTXFF5gAkV4gTSrmS3njDrKCsIh7_r4pwoZUg1CKLRX4izRqqvOIKDFdEMkJ9Vr3ePKuPl0uXBt2EZFxdQ-viMmkuGSIcV_8ECWK4wgxl8OUaXEDtdGh9zOUwK1hPsVSCSaFwpl7soUwXLvU2NNkD5WVdE3LTOB_y-Y71zU5AZgb3a1jAMiV9fPZtl317Nzs9_zE73UubPqbUO39Tcoz0agz01hhk-tl2s9yym77PwKsNAMlA7XtoTUi3nMLVRoT_SmvC8GdIciVCfUfy5-uY9eGNdJv5DQTvJcE
sourcetypeOpen Access Repository
isCDItrue
recordtypearticle
pqid20415140
display
typearticle
titleA second generation human haplotype map of over 3.1 million SNPs
creatorCox, David R ; Stuve, Laura L ; Gibbs, Richard A ; Belmont, John W ; Boudreau, Andrew ; Leal, Suzanne M ; Wheeler, David A ; Yu, Fuli ; Zeng, Changqing ; Gao, Yang ; Hu, Weitao ; Pan, Hao ; Tang, Xiaoli ; Wang, Jian ; Zhang, Qingrun ; Barry, Rachel ; Faggart, Maura ; Gupta, Supriya ; Moore, Jamie ; Roy, Jessica ; Winchester, Ellen ; Altshuler, David ; Shen, Yan ; Huang, Wei ; Liu, Yangfan ; Wang, Haifeng ; Xu, Liang ; Murray, Sarah S ; Montpetit, Alexandre ; Chagnon, Fanny ; Ferretti, Vincent ; Leboeuf, Martin ; Olivier, Jean-François ; Phillips, Michael S ; Koboldt, Daniel C ; Kitamoto, Takuya ; Ohnishi, Yozo ; Sekine, Akihiro ; Hunt, Sarah ; Morrison, Jonathan ; Powell, Don ; Stranger, Barbara E ; Bentley, David R ; de Bakker, Paul I W ; Chretien, Yves R ; McCarroll, Steve ; Schaffner, Stephen F ; Sham, Pak C ; Varilly, Patrick ; Krishnan, Lalitha ; Smith, Albert Vernon ; Tello-Ruiz, Marcela K ; Chen, Peter E ; Kashuk, Carl S ; Lin, Shin ; Abecasis, Gonçalo R ; McVean, Gilean ; Bottolo, Leonardo ; Cardin, Niall ; Eyheramendy, Susana ; Spencer, Chris ; Stephens, Matthew ; Clarke, Geraldine ; Morris, Andrew P ; Weir, Bruce S ; Mullikin, James C ; Matsuda, Ichiro ; Fukushima, Yoshimitsu ; Suda, Eiko ; Adebamowo, Clement A ; Marshall, Patricia A ; Royal, Charmaine D M ; Kato, Kazuto ; Adewole, Isaac F ; Knoppers, Bartha M ; Foster, Morris W ; Clayton, Ellen Wright ; Muzny, Donna ; Sodergren, Erica ; Yakub, Imtaz ; Fulton, Lucinda L ; Rogers, Jane ; Carter, Nigel P ; Griffiths, Mark ; Jones, Matthew C ; Ross, Mark T ; Sims, Sarah K ; Chen, Zhu ; Han, Hua ; Kang, Le ; Godbout, Martin ; Wallenburg, John C ; Wang, Hongguang ; Wang, Renwu ; Guyer, Mark S ; Peterson, Jane L ; Spiegel, Jack ; Collins, Francis S ; Kennedy, Karen ; Stewart, John
creatorcontribCox, David R ; Stuve, Laura L ; Gibbs, Richard A ; Belmont, John W ; Boudreau, Andrew ; Leal, Suzanne M ; Wheeler, David A ; Yu, Fuli ; Zeng, Changqing ; Gao, Yang ; Hu, Weitao ; Pan, Hao ; Tang, Xiaoli ; Wang, Jian ; Zhang, Qingrun ; Barry, Rachel ; Faggart, Maura ; Gupta, Supriya ; Moore, Jamie ; Roy, Jessica ; Winchester, Ellen ; Altshuler, David ; Shen, Yan ; Huang, Wei ; Liu, Yangfan ; Wang, Haifeng ; Xu, Liang ; Murray, Sarah S ; Montpetit, Alexandre ; Chagnon, Fanny ; Ferretti, Vincent ; Leboeuf, Martin ; Olivier, Jean-François ; Phillips, Michael S ; Koboldt, Daniel C ; Kitamoto, Takuya ; Ohnishi, Yozo ; Sekine, Akihiro ; Hunt, Sarah ; Morrison, Jonathan ; Powell, Don ; Stranger, Barbara E ; Bentley, David R ; de Bakker, Paul I W ; Chretien, Yves R ; McCarroll, Steve ; Schaffner, Stephen F ; Sham, Pak C ; Varilly, Patrick ; Krishnan, Lalitha ; Smith, Albert Vernon ; Tello-Ruiz, Marcela K ; Chen, Peter E ; Kashuk, Carl S ; Lin, Shin ; Abecasis, Gonçalo R ; McVean, Gilean ; Bottolo, Leonardo ; Cardin, Niall ; Eyheramendy, Susana ; Spencer, Chris ; Stephens, Matthew ; Clarke, Geraldine ; Morris, Andrew P ; Weir, Bruce S ; Mullikin, James C ; Matsuda, Ichiro ; Fukushima, Yoshimitsu ; Suda, Eiko ; Adebamowo, Clement A ; Marshall, Patricia A ; Royal, Charmaine D M ; Kato, Kazuto ; Adewole, Isaac F ; Knoppers, Bartha M ; Foster, Morris W ; Clayton, Ellen Wright ; Muzny, Donna ; Sodergren, Erica ; Yakub, Imtaz ; Fulton, Lucinda L ; Rogers, Jane ; Carter, Nigel P ; Griffiths, Mark ; Jones, Matthew C ; Ross, Mark T ; Sims, Sarah K ; Chen, Zhu ; Han, Hua ; Kang, Le ; Godbout, Martin ; Wallenburg, John C ; Wang, Hongguang ; Wang, Renwu ; Guyer, Mark S ; Peterson, Jane L ; Spiegel, Jack ; Collins, Francis S ; Kennedy, Karen ; Stewart, John ; International HapMap Consortium ; The International HapMap Consortium
descriptionWe describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and includes 25-35% of common SNP variation in the populations surveyed. The map is estimated to capture untyped common variation with an average maximum r2 of between 0.9 and 0.96 depending on population. We demonstrate that the current generation of commercial genome-wide genotyping products captures common Phase II SNPs with an average maximum r2 of up to 0.8 in African and up to 0.95 in non-African populations, and that potential gains in power in association studies can be obtained through imputation. These data also reveal novel aspects of the structure of linkage disequilibrium. We show that 10-30% of pairs of individuals within a population share at least one region of extended genetic identity arising from recent ancestry and that up to 1% of all common variants are untaggable, primarily because they lie within recombination hotspots. We show that recombination rates vary systematically around genes and between genes of different function. Finally, we demonstrate increased differentiation at non-synonymous, compared to synonymous, SNPs, resulting from systematic differences in the strength or efficacy of natural selection between populations.
identifier
0ISSN: 0028-0836
1EISSN: 1476-4687
2EISSN: 1476-4679
3DOI: 10.1038/nature06258
4PMID: 17943122
5CODEN: NATUAS
languageeng
publisherLondon: Nature Publishing
subjectArticle ; Biological and medical sciences ; Classical genetics, quantitative genetics, hybrids ; Continental Population Groups - genetics ; Female ; Fundamental and applied biological sciences. Psychology ; Genetic research ; Genetics of eukaryotes. Biological and molecular evolution ; Haplotypes ; Haplotypes - genetics ; Homozygote ; Human ; Humans ; Linkage Disequilibrium - genetics ; Male ; Methods ; Polymorphism, Single Nucleotide - genetics ; Recombination, Genetic - genetics ; Selection, Genetic ; Single nucleotide polymorphisms
ispartofNature, 2007-10-18, Vol.449 (7164), p.851-861
rights
02008 INIST-CNRS
1COPYRIGHT 2007 Nature Publishing Group
22007 Nature Publishing Group 2007
lds50peer_reviewed
oafree_for_read
citedbyFETCH-LOGICAL-1797t-519e9305cbdadf6f2fa98762564c9da586abe4a20e283d6386fcbca2a726f6480
citesFETCH-LOGICAL-1797t-519e9305cbdadf6f2fa98762564c9da586abe4a20e283d6386fcbca2a726f6480
links
openurl$$Topenurl_article
thumbnail$$Usyndetics_thumb_exl
backlink
0$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19156258$$DView record in Pascal Francis
1$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17943122$$D View this record in MEDLINE/PubMed
search
creatorcontrib
0Cox, David R
1Stuve, Laura L
2Gibbs, Richard A
3Belmont, John W
4Boudreau, Andrew
5Leal, Suzanne M
6Wheeler, David A
7Yu, Fuli
8Zeng, Changqing
9Gao, Yang
10Hu, Weitao
11Pan, Hao
12Tang, Xiaoli
13Wang, Jian
14Zhang, Qingrun
15Barry, Rachel
16Faggart, Maura
17Gupta, Supriya
18Moore, Jamie
19Roy, Jessica
20Winchester, Ellen
21Altshuler, David
22Shen, Yan
23Huang, Wei
24Liu, Yangfan
25Wang, Haifeng
26Xu, Liang
27Murray, Sarah S
28Montpetit, Alexandre
29Chagnon, Fanny
30Ferretti, Vincent
31Leboeuf, Martin
32Olivier, Jean-François
33Phillips, Michael S
34Koboldt, Daniel C
35Kitamoto, Takuya
36Ohnishi, Yozo
37Sekine, Akihiro
38Hunt, Sarah
39Morrison, Jonathan
40Powell, Don
41Stranger, Barbara E
42Bentley, David R
43de Bakker, Paul I W
44Chretien, Yves R
45McCarroll, Steve
46Schaffner, Stephen F
47Sham, Pak C
48Varilly, Patrick
49Krishnan, Lalitha
50Smith, Albert Vernon
51Tello-Ruiz, Marcela K
52Chen, Peter E
53Kashuk, Carl S
54Lin, Shin
55Abecasis, Gonçalo R
56McVean, Gilean
57Bottolo, Leonardo
58Cardin, Niall
59Eyheramendy, Susana
60Spencer, Chris
61Stephens, Matthew
62Clarke, Geraldine
63Morris, Andrew P
64Weir, Bruce S
65Mullikin, James C
66Matsuda, Ichiro
67Fukushima, Yoshimitsu
68Suda, Eiko
69Adebamowo, Clement A
70Marshall, Patricia A
71Royal, Charmaine D M
72Kato, Kazuto
73Adewole, Isaac F
74Knoppers, Bartha M
75Foster, Morris W
76Clayton, Ellen Wright
77Muzny, Donna
78Sodergren, Erica
79Yakub, Imtaz
80Fulton, Lucinda L
81Rogers, Jane
82Carter, Nigel P
83Griffiths, Mark
84Jones, Matthew C
85Ross, Mark T
86Sims, Sarah K
87Chen, Zhu
88Han, Hua
89Kang, Le
90Godbout, Martin
91Wallenburg, John C
92Wang, Hongguang
93Wang, Renwu
94Guyer, Mark S
95Peterson, Jane L
96Spiegel, Jack
97Collins, Francis S
98Kennedy, Karen
99Stewart, John
100International HapMap Consortium
101The International HapMap Consortium
title
0A second generation human haplotype map of over 3.1 million SNPs
1Nature
addtitleNature
descriptionWe describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and includes 25-35% of common SNP variation in the populations surveyed. The map is estimated to capture untyped common variation with an average maximum r2 of between 0.9 and 0.96 depending on population. We demonstrate that the current generation of commercial genome-wide genotyping products captures common Phase II SNPs with an average maximum r2 of up to 0.8 in African and up to 0.95 in non-African populations, and that potential gains in power in association studies can be obtained through imputation. These data also reveal novel aspects of the structure of linkage disequilibrium. We show that 10-30% of pairs of individuals within a population share at least one region of extended genetic identity arising from recent ancestry and that up to 1% of all common variants are untaggable, primarily because they lie within recombination hotspots. We show that recombination rates vary systematically around genes and between genes of different function. Finally, we demonstrate increased differentiation at non-synonymous, compared to synonymous, SNPs, resulting from systematic differences in the strength or efficacy of natural selection between populations.
subject
0Article
1Biological and medical sciences
2Classical genetics, quantitative genetics, hybrids
3Continental Population Groups - genetics
4Female
5Fundamental and applied biological sciences. Psychology
6Genetic research
7Genetics of eukaryotes. Biological and molecular evolution
8Haplotypes
9Haplotypes - genetics
10Homozygote
11Human
12Humans
13Linkage Disequilibrium - genetics
14Male
15Methods
16Polymorphism, Single Nucleotide - genetics
17Recombination, Genetic - genetics
18Selection, Genetic
19Single nucleotide polymorphisms
issn
00028-0836
11476-4687
21476-4679
fulltextfalse
rsrctypearticle
creationdate2007
recordtypearticle
recordideNqNk1trE0EUgBdRbKw--S6roiCSOLedy4sYgtpCqWIrPg4nc0lHdne2O5ti_70TE9pEUpSBHZj9zndmDucUxVOMJhhR-a6FYdk7xEkl7xUjzAQfMy7F_WKEEJFjJCk_KB6l9BMhVGHBHhYHWChGMSGj4sO0TM7E1pYL17oehhDb8mLZQP5CV8fhunNlA10ZfRmvXF_SCS6bUNcr7uz0a3pcPPBQJ_dksx8W3z99PJ8djU--fD6eTU_GOZcYxhVWTlFUmbkF67knHpQU-c6cGWWhkhzmjgFBjkhqOZXcm7kBAoJwz5lEh8X7tbdbzhtnjWuHHmrd9aGB_lpHCHr3Txsu9CJeacKl4khlwdFaEDvXQujdTqxt3aCj1YpjTXFF5gAkV4gTSrmS3njDrKCsIh7_r4pwoZUg1CKLRX4izRqqvOIKDFdEMkJ9Vr3ePKuPl0uXBt2EZFxdQ-viMmkuGSIcV_8ECWK4wgxl8OUaXEDtdGh9zOUwK1hPsVSCSaFwpl7soUwXLvU2NNkD5WVdE3LTOB_y-Y71zU5AZgb3a1jAMiV9fPZtl317Nzs9_zE73UubPqbUO39Tcoz0agz01hhk-tl2s9yym77PwKsNAMlA7XtoTUi3nMLVRoT_SmvC8GdIciVCfUfy5-uY9eGNdJv5DQTvJcE
startdate20071018
enddate20071018
creator
0Cox, David R
1Stuve, Laura L
2Gibbs, Richard A
3Belmont, John W
4Boudreau, Andrew
5Leal, Suzanne M
6Wheeler, David A
7Yu, Fuli
8Zeng, Changqing
9Gao, Yang
10Hu, Weitao
11Pan, Hao
12Tang, Xiaoli
13Wang, Jian
14Zhang, Qingrun
15Barry, Rachel
16Faggart, Maura
17Gupta, Supriya
18Moore, Jamie
19Roy, Jessica
20Winchester, Ellen
21Altshuler, David
22Shen, Yan
23Huang, Wei
24Liu, Yangfan
25Wang, Haifeng
26Xu, Liang
27Murray, Sarah S
28Montpetit, Alexandre
29Chagnon, Fanny
30Ferretti, Vincent
31Leboeuf, Martin
32Olivier, Jean-François
33Phillips, Michael S
34Koboldt, Daniel C
35Kitamoto, Takuya
36Ohnishi, Yozo
37Sekine, Akihiro
38Hunt, Sarah
39Morrison, Jonathan
40Powell, Don
41Stranger, Barbara E
42Bentley, David R
43de Bakker, Paul I W
44Chretien, Yves R
45McCarroll, Steve
46Schaffner, Stephen F
47Sham, Pak C
48Varilly, Patrick
49Krishnan, Lalitha
50Smith, Albert Vernon
51Tello-Ruiz, Marcela K
52Chen, Peter E
53Kashuk, Carl S
54Lin, Shin
55Abecasis, Gonçalo R
56McVean, Gilean
57Bottolo, Leonardo
58Cardin, Niall
59Eyheramendy, Susana
60Spencer, Chris
61Stephens, Matthew
62Clarke, Geraldine
63Morris, Andrew P
64Weir, Bruce S
65Mullikin, James C
66Matsuda, Ichiro
67Fukushima, Yoshimitsu
68Suda, Eiko
69Adebamowo, Clement A
70Marshall, Patricia A
71Royal, Charmaine D M
72Kato, Kazuto
73Adewole, Isaac F
74Knoppers, Bartha M
75Foster, Morris W
76Clayton, Ellen Wright
77Muzny, Donna
78Sodergren, Erica
79Yakub, Imtaz
80Fulton, Lucinda L
81Rogers, Jane
82Carter, Nigel P
83Griffiths, Mark
84Jones, Matthew C
85Ross, Mark T
86Sims, Sarah K
87Chen, Zhu
88Han, Hua
89Kang, Le
90Godbout, Martin
91Wallenburg, John C
92Wang, Hongguang
93Wang, Renwu
94Guyer, Mark S
95Peterson, Jane L
96Spiegel, Jack
97Collins, Francis S
98Kennedy, Karen
99Stewart, John
general
0Nature Publishing
1Nature Publishing Group
2United Kingdom
scope
0IQODW
1CGR
2CUY
3CVF
4ECM
5EIF
6NPM
7AAYXX
8CITATION
98FD
10FR3
11P64
12RC3
137X8
14BOBZL
15CLFQK
165PM
sort
creationdate20071018
titleA second generation human haplotype map of over 3.1 million SNPs
authorCox, David R ; Stuve, Laura L ; Gibbs, Richard A ; Belmont, John W ; Boudreau, Andrew ; Leal, Suzanne M ; Wheeler, David A ; Yu, Fuli ; Zeng, Changqing ; Gao, Yang ; Hu, Weitao ; Pan, Hao ; Tang, Xiaoli ; Wang, Jian ; Zhang, Qingrun ; Barry, Rachel ; Faggart, Maura ; Gupta, Supriya ; Moore, Jamie ; Roy, Jessica ; Winchester, Ellen ; Altshuler, David ; Shen, Yan ; Huang, Wei ; Liu, Yangfan ; Wang, Haifeng ; Xu, Liang ; Murray, Sarah S ; Montpetit, Alexandre ; Chagnon, Fanny ; Ferretti, Vincent ; Leboeuf, Martin ; Olivier, Jean-François ; Phillips, Michael S ; Koboldt, Daniel C ; Kitamoto, Takuya ; Ohnishi, Yozo ; Sekine, Akihiro ; Hunt, Sarah ; Morrison, Jonathan ; Powell, Don ; Stranger, Barbara E ; Bentley, David R ; de Bakker, Paul I W ; Chretien, Yves R ; McCarroll, Steve ; Schaffner, Stephen F ; Sham, Pak C ; Varilly, Patrick ; Krishnan, Lalitha ; Smith, Albert Vernon ; Tello-Ruiz, Marcela K ; Chen, Peter E ; Kashuk, Carl S ; Lin, Shin ; Abecasis, Gonçalo R ; McVean, Gilean ; Bottolo, Leonardo ; Cardin, Niall ; Eyheramendy, Susana ; Spencer, Chris ; Stephens, Matthew ; Clarke, Geraldine ; Morris, Andrew P ; Weir, Bruce S ; Mullikin, James C ; Matsuda, Ichiro ; Fukushima, Yoshimitsu ; Suda, Eiko ; Adebamowo, Clement A ; Marshall, Patricia A ; Royal, Charmaine D M ; Kato, Kazuto ; Adewole, Isaac F ; Knoppers, Bartha M ; Foster, Morris W ; Clayton, Ellen Wright ; Muzny, Donna ; Sodergren, Erica ; Yakub, Imtaz ; Fulton, Lucinda L ; Rogers, Jane ; Carter, Nigel P ; Griffiths, Mark ; Jones, Matthew C ; Ross, Mark T ; Sims, Sarah K ; Chen, Zhu ; Han, Hua ; Kang, Le ; Godbout, Martin ; Wallenburg, John C ; Wang, Hongguang ; Wang, Renwu ; Guyer, Mark S ; Peterson, Jane L ; Spiegel, Jack ; Collins, Francis S ; Kennedy, Karen ; Stewart, John
facets
frbrtype5
frbrgroupidcdi_FETCH-LOGICAL-1797t-519e9305cbdadf6f2fa98762564c9da586abe4a20e283d6386fcbca2a726f6480
rsrctypearticles
prefilterarticles
languageeng
creationdate2007
topic
0Article
1Biological and medical sciences
2Classical genetics, quantitative genetics, hybrids
3Continental Population Groups - genetics
4Female
5Fundamental and applied biological sciences. Psychology
6Genetic research
7Genetics of eukaryotes. Biological and molecular evolution
8Haplotypes
9Haplotypes - genetics
10Homozygote
11Human
12Humans
13Linkage Disequilibrium - genetics
14Male
15Methods
16Polymorphism, Single Nucleotide - genetics
17Recombination, Genetic - genetics
18Selection, Genetic
19Single nucleotide polymorphisms
toplevelpeer_reviewed
creatorcontrib
0Cox, David R
1Stuve, Laura L
2Gibbs, Richard A
3Belmont, John W
4Boudreau, Andrew
5Leal, Suzanne M
6Wheeler, David A
7Yu, Fuli
8Zeng, Changqing
9Gao, Yang
10Hu, Weitao
11Pan, Hao
12Tang, Xiaoli
13Wang, Jian
14Zhang, Qingrun
15Barry, Rachel
16Faggart, Maura
17Gupta, Supriya
18Moore, Jamie
19Roy, Jessica
20Winchester, Ellen
21Altshuler, David
22Shen, Yan
23Huang, Wei
24Liu, Yangfan
25Wang, Haifeng
26Xu, Liang
27Murray, Sarah S
28Montpetit, Alexandre
29Chagnon, Fanny
30Ferretti, Vincent
31Leboeuf, Martin
32Olivier, Jean-François
33Phillips, Michael S
34Koboldt, Daniel C
35Kitamoto, Takuya
36Ohnishi, Yozo
37Sekine, Akihiro
38Hunt, Sarah
39Morrison, Jonathan
40Powell, Don
41Stranger, Barbara E
42Bentley, David R
43de Bakker, Paul I W
44Chretien, Yves R
45McCarroll, Steve
46Schaffner, Stephen F
47Sham, Pak C
48Varilly, Patrick
49Krishnan, Lalitha
50Smith, Albert Vernon
51Tello-Ruiz, Marcela K
52Chen, Peter E
53Kashuk, Carl S
54Lin, Shin
55Abecasis, Gonçalo R
56McVean, Gilean
57Bottolo, Leonardo
58Cardin, Niall
59Eyheramendy, Susana
60Spencer, Chris
61Stephens, Matthew
62Clarke, Geraldine
63Morris, Andrew P
64Weir, Bruce S
65Mullikin, James C
66Matsuda, Ichiro
67Fukushima, Yoshimitsu
68Suda, Eiko
69Adebamowo, Clement A
70Marshall, Patricia A
71Royal, Charmaine D M
72Kato, Kazuto
73Adewole, Isaac F
74Knoppers, Bartha M
75Foster, Morris W
76Clayton, Ellen Wright
77Muzny, Donna
78Sodergren, Erica
79Yakub, Imtaz
80Fulton, Lucinda L
81Rogers, Jane
82Carter, Nigel P
83Griffiths, Mark
84Jones, Matthew C
85Ross, Mark T
86Sims, Sarah K
87Chen, Zhu
88Han, Hua
89Kang, Le
90Godbout, Martin
91Wallenburg, John C
92Wang, Hongguang
93Wang, Renwu
94Guyer, Mark S
95Peterson, Jane L
96Spiegel, Jack
97Collins, Francis S
98Kennedy, Karen
99Stewart, John
100International HapMap Consortium
101The International HapMap Consortium
collection
0Pascal-Francis
1Medline
2MEDLINE
3MEDLINE (Ovid)
4MEDLINE
5MEDLINE
6PubMed
7CrossRef
8Technology Research Database
9Engineering Research Database
10Biotechnology and BioEngineering Abstracts
11Genetics Abstracts
12MEDLINE - Academic
13OpenAIRE (Open Access)
14OpenAIRE
15PubMed Central (Full Participant titles)
jtitleNature
delivery
delcategoryRemote Search Resource
fulltextno_fulltext
addata
au
0Cox, David R
1Stuve, Laura L
2Gibbs, Richard A
3Belmont, John W
4Boudreau, Andrew
5Leal, Suzanne M
6Wheeler, David A
7Yu, Fuli
8Zeng, Changqing
9Gao, Yang
10Hu, Weitao
11Pan, Hao
12Tang, Xiaoli
13Wang, Jian
14Zhang, Qingrun
15Barry, Rachel
16Faggart, Maura
17Gupta, Supriya
18Moore, Jamie
19Roy, Jessica
20Winchester, Ellen
21Altshuler, David
22Shen, Yan
23Huang, Wei
24Liu, Yangfan
25Wang, Haifeng
26Xu, Liang
27Murray, Sarah S
28Montpetit, Alexandre
29Chagnon, Fanny
30Ferretti, Vincent
31Leboeuf, Martin
32Olivier, Jean-François
33Phillips, Michael S
34Koboldt, Daniel C
35Kitamoto, Takuya
36Ohnishi, Yozo
37Sekine, Akihiro
38Hunt, Sarah
39Morrison, Jonathan
40Powell, Don
41Stranger, Barbara E
42Bentley, David R
43de Bakker, Paul I W
44Chretien, Yves R
45McCarroll, Steve
46Schaffner, Stephen F
47Sham, Pak C
48Varilly, Patrick
49Krishnan, Lalitha
50Smith, Albert Vernon
51Tello-Ruiz, Marcela K
52Chen, Peter E
53Kashuk, Carl S
54Lin, Shin
55Abecasis, Gonçalo R
56McVean, Gilean
57Bottolo, Leonardo
58Cardin, Niall
59Eyheramendy, Susana
60Spencer, Chris
61Stephens, Matthew
62Clarke, Geraldine
63Morris, Andrew P
64Weir, Bruce S
65Mullikin, James C
66Matsuda, Ichiro
67Fukushima, Yoshimitsu
68Suda, Eiko
69Adebamowo, Clement A
70Marshall, Patricia A
71Royal, Charmaine D M
72Kato, Kazuto
73Adewole, Isaac F
74Knoppers, Bartha M
75Foster, Morris W
76Clayton, Ellen Wright
77Muzny, Donna
78Sodergren, Erica
79Yakub, Imtaz
80Fulton, Lucinda L
81Rogers, Jane
82Carter, Nigel P
83Griffiths, Mark
84Jones, Matthew C
85Ross, Mark T
86Sims, Sarah K
87Chen, Zhu
88Han, Hua
89Kang, Le
90Godbout, Martin
91Wallenburg, John C
92Wang, Hongguang
93Wang, Renwu
94Guyer, Mark S
95Peterson, Jane L
96Spiegel, Jack
97Collins, Francis S
98Kennedy, Karen
99Stewart, John
aucorp
0International HapMap Consortium
1The International HapMap Consortium
formatjournal
genrearticle
ristypeJOUR
atitleA second generation human haplotype map of over 3.1 million SNPs
jtitleNature
addtitleNature
date2007-10-18
risdate2007
volume449
issue7164
spage851
epage861
pages851-861
issn0028-0836
eissn
01476-4687
11476-4679
codenNATUAS
notesLists of participants and affiliations appear at the end of the paper.
abstractWe describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and includes 25-35% of common SNP variation in the populations surveyed. The map is estimated to capture untyped common variation with an average maximum r2 of between 0.9 and 0.96 depending on population. We demonstrate that the current generation of commercial genome-wide genotyping products captures common Phase II SNPs with an average maximum r2 of up to 0.8 in African and up to 0.95 in non-African populations, and that potential gains in power in association studies can be obtained through imputation. These data also reveal novel aspects of the structure of linkage disequilibrium. We show that 10-30% of pairs of individuals within a population share at least one region of extended genetic identity arising from recent ancestry and that up to 1% of all common variants are untaggable, primarily because they lie within recombination hotspots. We show that recombination rates vary systematically around genes and between genes of different function. Finally, we demonstrate increased differentiation at non-synonymous, compared to synonymous, SNPs, resulting from systematic differences in the strength or efficacy of natural selection between populations.
copLondon
pubNature Publishing
pmid17943122
doi10.1038/nature06258
tpages12
oafree_for_read