3 research outputs found
A second generation human haplotype map of over 3.1 million SNPs
- Author
- Abecasis GR
- Adebamowo CA
- Adewole IF
- Ajayi I
- Altshuler D
- Altshuler D
- Altshuler D
- An D
- Aniagwu T
- Auton A
- Ballinger DG
- Barrett J
- Barry R
- Bellemare G
- Belmont JW
- Belmont JW
- Bentley DR
- Bird CP
- Birren BW
- Blumenstiel B
- Bottolo L
- Boudreau A
- Brooks LD
- Burton J
- Cai D
- Camargo A
- Cardin N
- Cardon LR
- Carter NP
- Chagnon F
- Chakravarti A
- Chee MS
- Chen PE
- Chen Z
- Chretien YR
- Chu X
- Clarke G
- Clayton EW
- Clee CM
- Collins FS
- Cox DR
- Cutler DJ
- Daly MJ
- Daly MJ
- de Bakker PI
- Defelice M
- Delgado M
- Deloukas P
- Dermitzakis ET
- Dixon M
- Donnelly P
- Evans DM
- Eyheramendy S
- Faggart M
- Fan JB
- Feolo M
- Ferretti V
- Foster MW
- Frazer KA
- Freeman C
- Fu H
- Fukushima Y
- Fulton LL
- Gabriel SB
- Gabriel SB
- Galver LM
- Gao Y
- Gibbs RA
- Gibbs RA
- Godbout M
- Goyette M
- Griffiths M
- Guan W
- Gunderson K
- Gupta S
- Guyer MS
- Gwilliam R
- Han H
- Hardenbol P
- He Y
- Hinds DA
- Holden AL
- Hu H
- Hu W
- Huang W
- Hudson TJ
- Hunt S
- Jamieson R
- Jin L
- Jones MC
- Kang L
- Kashuk CS
- Kato K
- Kawaguchi T
- Kennedy K
- Kent A
- Kitamoto T
- Knoppers BM
- Koboldt DC
- Krishnan L
- Kwok PY
- L'ArchevĂŞque P
- Leal SM
- Leboeuf M
- Leppert MF
- Li C
- Li Q
- Li Y
- Lin S
- Lin W
- Liu S
- Liu Y
- Macer DR
- Mak W
- Maller J
- Marchini J
- Marshall PA
- Matsuda I
- McCarroll S
- McEwen JE
- McLay K
- McVean G
- Miller RD
- Montpetit A
- Moore J
- Morizono T
- Morris AP
- Morrison J
- Mullikin JC
- Munro HM
- Murray SS
- Muzny D
- Myers S
- Nagashima A
- Nakamura Y
- Nazareth L
- Nguyen H
- Niikawa N
- Nkwodimmah C
- Ohnishi Y
- Oliphant AR
- Olivier JF
- Onofrio RC
- Onofrio RC
- Pan H
- Parkin M
- Pasternak S
- Patterson N
- Pawlikowska L
- Pe'er I
- Peiffer A
- Peterson JL
- Phillips MS
- Plumb RW
- Powell D
- Price A
- Purcell S
- Qin ZS
- Qiu R
- Richter DJ
- Richter DJ
- Rogers J
- Ross MT
- Rotimi CN
- Roumy S
- Roy J
- Royal CD
- Sabeti P
- Saeki K
- Sallée C
- Saxena R
- Schaffner SF
- Sekine A
- Sham PC
- Shen Y
- Shen Y
- Sherry ST
- Shi M
- Sims SK
- Skol A
- Smith AV
- Sodergren E
- Song YQ
- Spencer C
- Spiegel J
- Stahl E
- Stein LD
- Stephens M
- Stewart J
- Stranger BE
- Stuve LL
- Suda E
- Sun W
- Sung LM
- Taillon-Miller P
- Tam PK
- Tanaka T
- Tang X
- Tello-Ruiz MK
- Thomas DJ
- Thorisson GA
- Tsui LC
- Tsui SK
- Tsunoda T
- Tsunoda T
- Varilly P
- Verner A
- Wallenburg JC
- Wang H
- Wang H
- Wang J
- Wang R
- Wang VO
- Wang W
- Wang Y
- Wang Y
- Wang Z
- Watkin J
- Waye MM
- Weinstock GM
- Weir BS
- Wheeler DA
- Wheeler DA
- Whittaker P
- Willey DL
- Willis TD
- Wilson RK
- Winchester E
- Wong JT
- Xiao M
- Xiong X
- Xu L
- Xue H
- Yakub I
- Yang H
- Yao Z
- Yu F
- Yu J
- Zacharia LF
- Zeng C
- Zeng C
- Zhang B
- Zhang H
- Zhang Q
- Zhao H
- Zhao H
- Zhao H
- Zhou J
- Ziaugra L
- Ziaugra L
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2007
- Field of study
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 r(2) 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 r(2) 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.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/62863/1/nature06258.pd
Genome-wide detection and characterization of positive selection in human populations
- Author
- Abecasis GR
- Adebamowo CA
- Adewole IF
- Ajayi I
- Altshuler D
- Altshuler D
- Altshuler D
- An D
- Aniagwu T
- Auton A
- Ballinger DG
- Barrett J
- Barry R
- Bellemare G
- Belmont JW
- Belmont JW
- Bentley DR
- Bird CP
- Birren BW
- Blumenstiel B
- Bottolo L
- Boudreau A
- Brooks LD
- Burton J
- Byrne EH
- Cai D
- Camargo A
- Cardin N
- Cardon LR
- Carter NP
- Chagnon F
- Chakravarti A
- Chee MS
- Chen PE
- Chen Z
- Chretien YR
- Chu X
- Clarke G
- Clayton EW
- Clee CM
- Collins FS
- Cotsapas C
- Cox DR
- Cutler DJ
- Daly MJ
- Daly MJ
- de Bakker PI
- Defelice M
- Delgado M
- Deloukas P
- Dermitzakis ET
- Dixon M
- Donnelly P
- Evans DM
- Eyheramendy S
- Faggart M
- Fan JB
- Feolo M
- Ferretti V
- Foster MW
- Frazer KA
- Freeman C
- Fry B
- Fu H
- Fukushima Y
- Fulton LL
- Gabriel SB
- Gabriel SB
- Galver LM
- Gao Y
- Gaudet R
- Gibbs RA
- Gibbs RA
- Godbout M
- Goyette M
- Griffiths M
- Guan W
- Gunderson K
- Gupta S
- Guyer MS
- Gwilliam R
- Han H
- Hardenbol P
- He Y
- Hinds DA
- Holden AL
- Hostetter E
- Hu H
- Hu W
- Huang W
- Hudson TJ
- Hunt S
- Jamieson R
- Jin L
- Johnson TA
- Jones MC
- Kang L
- Kashuk CS
- Kato K
- Kawaguchi T
- Kennedy K
- Kent A
- Kitamoto T
- Knoppers BM
- Koboldt DC
- Krishnan L
- Kwok PY
- L'ArchevĂŞque P
- Lander ES
- Leal SM
- Leboeuf M
- Leppert MF
- Li C
- Li Q
- Li Y
- Lin S
- Lin W
- Liu S
- Liu Y
- Lohmueller J
- Macer DR
- Mak W
- Maller J
- Marchini J
- Marshall PA
- Matsuda I
- McCarroll S
- McCarroll SA
- McEwen JE
- McLay K
- McVean G
- Miller RD
- Montpetit A
- Moore J
- Morizono T
- Morris AP
- Morrison J
- Mullikin JC
- Munro HM
- Murray SS
- Muzny D
- Myers S
- Nagashima A
- Nakamura Y
- Nazareth L
- Nguyen H
- Niikawa N
- Nkwodimmah C
- Ohnishi Y
- Oliphant AR
- Olivier JF
- Onofrio RC
- Onofrio RC
- Pan H
- Parkin M
- Pasternak S
- Patterson N
- Pawlikowska L
- Pe'er I
- Peiffer A
- Peterson JL
- Phillips MS
- Plumb RW
- Powell D
- Price A
- Purcell S
- Qin ZS
- Qiu R
- Richter DJ
- Richter DJ
- Rogers J
- Ross MT
- Rotimi CN
- Roumy S
- Roy J
- Royal CD
- Sabeti P
- Sabeti PC
- Saeki K
- Sallée C
- Saxena R
- Schaffner SF
- Schaffner SF
- Sekine A
- Sham PC
- Shen Y
- Shen Y
- Sherry ST
- Shi M
- Sims SK
- Skol A
- Smith AV
- Sodergren E
- Song YQ
- Spencer C
- Spiegel J
- Stahl E
- Stein LD
- Stephens M
- Stewart J
- Stranger BE
- Stuve LL
- Suda E
- Sun W
- Sung LM
- Taillon-Miller P
- Tam PK
- Tanaka T
- Tang X
- Tello-Ruiz MK
- Thomas DJ
- Thorisson GA
- Tsui LC
- Tsui SK
- Tsunoda T
- Tsunoda T
- Varilly P
- Varilly P
- Verner A
- Wallenburg JC
- Wang H
- Wang H
- Wang J
- Wang R
- Wang VO
- Wang W
- Wang Y
- Wang Y
- Wang Z
- Watkin J
- Waye MM
- Weinstock GM
- Weir BS
- Wheeler DA
- Wheeler DA
- Whittaker P
- Willey DL
- Willis TD
- Wilson RK
- Winchester E
- Wong JT
- Xiao M
- Xie X
- Xiong X
- Xu L
- Xue H
- Yakub I
- Yang H
- Yao Z
- Yu F
- Yu J
- Zacharia LF
- Zeng C
- Zeng C
- Zhang B
- Zhang H
- Zhang Q
- Zhao H
- Zhao H
- Zhao H
- Zhou J
- Ziaugra L
- Ziaugra L
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2007
- Field of study
With the advent of dense maps of human genetic variation, it is now possible to detect positive natural selection across the human genome. Here we report an analysis of over 3 million polymorphisms from the International HapMap Project Phase 2 (HapMap2). We used 'long-range haplotype' methods, which were developed to identify alleles segregating in a population that have undergone recent selection, and we also developed new methods that are based on cross-population comparisons to discover alleles that have swept to near-fixation within a population. The analysis reveals more than 300 strong candidate regions. Focusing on the strongest 22 regions, we develop a heuristic for scrutinizing these regions to identify candidate targets of selection. In a complementary analysis, we identify 26 non-synonymous, coding, single nucleotide polymorphisms showing regional evidence of positive selection. Examination of these candidates highlights three cases in which two genes in a common biological process have apparently undergone positive selection in the same population:LARGE and DMD, both related to infection by the Lassa virus, in West Africa;SLC24A5 and SLC45A2, both involved in skin pigmentation, in Europe; and EDAR and EDA2R, both involved in development of hair follicles, in Asia
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- A Alberigi Quaranta
- A Alm
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- A Barna
- A Bertin
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- A Bruggeman
- A Buchnea
- A Buchnea
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- A Charvet
- A Chatterjee
- A Chaumeaux
- A Choudry
- A Cosslett
- A Csöke
- A Cunsolo
- A Deloff
- A Djaloeis
- A Djaloeis
- A Doron
- A Emsallem
- A Emsallem
- A Esposito
- A Fasso
- A Feigel
- A Ferrero
- A Figureau
- A Filevich
- A Fioretti
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- A Friebel
- A Gal
- A Gal
- A Galonsky
- A Galonsky
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- A Gamp
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- A Gavron
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- A Green
- A Greil
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- A Guichard
- A Guichard
- A Guntherschulze
- A Imbusch
- A Ingermarsson
- A Kardontchik
- A Kernohan
- A Kiss
- A Kiss
- A Kohnle
- A Kumar
- A Lange
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- V Andersen
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- W Arnold
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- W Meckback
- W Moller
- W Niessner
- W Parker
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- WK Dagenhart
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- WL Reiter
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- WR Dixon
- WR Falk
- WR Falk
- WR Gibbs
- WR Gibbs
- WR Gibbs
- WR Gibbs
- WR Hering
- WR Phillips
- WR Wylie
- WR Wylie
- WV Conner
- WV Hassenzahl
- Wvander Eijk
- WW Bowman
- WW Daehnick
- WZ Wade
- Y Abgrall
- Y Alexander
- Y Alexander
- Y Avishai
- Y Bornec
- Y Chanut
- Y Chanut
- Y Chanut
- Y Civelekoglu
- Y Dar
- Y Dmitrevskii
- Y Eisen
- Y Eisenberg
- Y Futami
- Y Iwasaki
- Y Kagawa
- Y Kanda
- Y Leduigou
- Y Masri
- Y Shamai
- Y Sugiyama
- Y Suzuki
- Y Uemura
- Y Yamazaki
- Y Yang
- YA Berdnikov
- YA Berezhnoj
- YA Shcherbakov
- YA Volchek
- YD Bayukov
- YG Mashkarov
- YG Sevast’yanov
- YH Shen
- YK Gavrilov
- YP Antuf’ev
- YP Dmitrevskii
- YR Gismatullin
- YS Horowitz
- YS Korotkin
- YT Borzunov
- YT Borzunov
- YT Borzunov
- YT Borzunov
- Yu Gorodkov V
- Yu Sevast’yanov
- YW Lui
- YY Chu
- Z Basrak
- Z Fraenkel
- Z Hulek
- Z Majka
- Z Zinamon
- ZE Switkowski
- ZE Switkowski
- ZE Switkowski
- ZE Switkowski
- ZE Switkowski
- ZG Werner
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1981
- Field of study