Literature DB >> 17943122

A second generation human haplotype map of over 3.1 million SNPs.

Kelly A Frazer, Dennis G Ballinger, David R Cox, David A Hinds, Laura L Stuve, Richard A Gibbs, John W Belmont, Andrew Boudreau, Paul Hardenbol, Suzanne M Leal, Shiran Pasternak, David A Wheeler, Thomas D Willis, Fuli Yu, Huanming Yang, Changqing Zeng, Yang Gao, Haoran Hu, Weitao Hu, Chaohua Li, Wei Lin, Siqi Liu, Hao Pan, Xiaoli Tang, Jian Wang, Wei Wang, Jun Yu, Bo Zhang, Qingrun Zhang, Hongbin Zhao, Hui Zhao, Jun Zhou, Stacey B Gabriel, Rachel Barry, Brendan Blumenstiel, Amy Camargo, Matthew Defelice, Maura Faggart, Mary Goyette, Supriya Gupta, Jamie Moore, Huy Nguyen, Robert C Onofrio, Melissa Parkin, Jessica Roy, Erich Stahl, Ellen Winchester, Liuda Ziaugra, David Altshuler, Yan Shen, Zhijian Yao, Wei Huang, Xun Chu, Yungang He, Li Jin, Yangfan Liu, Yayun Shen, Weiwei Sun, Haifeng Wang, Yi Wang, Ying Wang, Xiaoyan Xiong, Liang Xu, Mary M Y Waye, Stephen K W Tsui, Hong Xue, J Tze-Fei Wong, Luana M Galver, Jian-Bing Fan, Kevin Gunderson, Sarah S Murray, Arnold R Oliphant, Mark S Chee, Alexandre Montpetit, Fanny Chagnon, Vincent Ferretti, Martin Leboeuf, Jean-François Olivier, Michael S Phillips, Stéphanie Roumy, Clémentine Sallée, Andrei Verner, Thomas J Hudson, Pui-Yan Kwok, Dongmei Cai, Daniel C Koboldt, Raymond D Miller, Ludmila Pawlikowska, Patricia Taillon-Miller, Ming Xiao, Lap-Chee Tsui, William Mak, You Qiang Song, Paul K H Tam, Yusuke Nakamura, Takahisa Kawaguchi, Takuya Kitamoto, Takashi Morizono, Atsushi Nagashima, Yozo Ohnishi, Akihiro Sekine, Toshihiro Tanaka, Tatsuhiko Tsunoda, Panos Deloukas, Christine P Bird, Marcos Delgado, Emmanouil T Dermitzakis, Rhian Gwilliam, Sarah Hunt, Jonathan Morrison, Don Powell, Barbara E Stranger, Pamela Whittaker, David R Bentley, Mark J Daly, Paul I W de Bakker, Jeff Barrett, Yves R Chretien, Julian Maller, Steve McCarroll, Nick Patterson, Itsik Pe'er, Alkes Price, Shaun Purcell, Daniel J Richter, Pardis Sabeti, Richa Saxena, Stephen F Schaffner, Pak C Sham, Patrick Varilly, David Altshuler, Lincoln D Stein, Lalitha Krishnan, Albert Vernon Smith, Marcela K Tello-Ruiz, Gudmundur A Thorisson, Aravinda Chakravarti, Peter E Chen, David J Cutler, Carl S Kashuk, Shin Lin, Gonçalo R Abecasis, Weihua Guan, Yun Li, Heather M Munro, Zhaohui Steve Qin, Daryl J Thomas, Gilean McVean, Adam Auton, Leonardo Bottolo, Niall Cardin, Susana Eyheramendy, Colin Freeman, Jonathan Marchini, Simon Myers, Chris Spencer, Matthew Stephens, Peter Donnelly, Lon R Cardon, Geraldine Clarke, David M Evans, Andrew P Morris, Bruce S Weir, Tatsuhiko Tsunoda, James C Mullikin, Stephen T Sherry, Michael Feolo, Andrew Skol, Houcan Zhang, Changqing Zeng, Hui Zhao, Ichiro Matsuda, Yoshimitsu Fukushima, Darryl R Macer, Eiko Suda, Charles N Rotimi, Clement A Adebamowo, Ike Ajayi, Toyin Aniagwu, Patricia A Marshall, Chibuzor Nkwodimmah, Charmaine D M Royal, Mark F Leppert, Missy Dixon, Andy Peiffer, Renzong Qiu, Alastair Kent, Kazuto Kato, Norio Niikawa, Isaac F Adewole, Bartha M Knoppers, Morris W Foster, Ellen Wright Clayton, Jessica Watkin, Richard A Gibbs, John W Belmont, Donna Muzny, Lynne Nazareth, Erica Sodergren, George M Weinstock, David A Wheeler, Imtaz Yakub, Stacey B Gabriel, Robert C Onofrio, Daniel J Richter, Liuda Ziaugra, Bruce W Birren, Mark J Daly, David Altshuler, Richard K Wilson, Lucinda L Fulton, Jane Rogers, John Burton, Nigel P Carter, Christopher M Clee, Mark Griffiths, Matthew C Jones, Kirsten McLay, Robert W Plumb, Mark T Ross, Sarah K Sims, David L Willey, Zhu Chen, Hua Han, Le Kang, Martin Godbout, John C Wallenburg, Paul L'Archevêque, Guy Bellemare, Koji Saeki, Hongguang Wang, Daochang An, Hongbo Fu, Qing Li, Zhen Wang, Renwu Wang, Arthur L Holden, Lisa D Brooks, Jean E McEwen, Mark S Guyer, Vivian Ota Wang, Jane L Peterson, Michael Shi, Jack Spiegel, Lawrence M Sung, Lynn F Zacharia, Francis S Collins, Karen Kennedy, Ruth Jamieson, John Stewart.   

Abstract

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.

Entities:  

Mesh:

Year:  2007        PMID: 17943122      PMCID: PMC2689609          DOI: 10.1038/nature06258

Source DB:  PubMed          Journal:  Nature        ISSN: 0028-0836            Impact factor:   49.962


  57 in total

1.  Characterization of single-nucleotide polymorphisms in coding regions of human genes.

Authors:  M Cargill; D Altshuler; J Ireland; P Sklar; K Ardlie; N Patil; N Shaw; C R Lane; E P Lim; N Kalyanaraman; J Nemesh; L Ziaugra; L Friedland; A Rolfe; J Warrington; R Lipshutz; G Q Daley; E S Lander
Journal:  Nat Genet       Date:  1999-07       Impact factor: 38.330

2.  Whole-genome patterns of common DNA variation in three human populations.

Authors:  David A Hinds; Laura L Stuve; Geoffrey B Nilsen; Eran Halperin; Eleazar Eskin; Dennis G Ballinger; Kelly A Frazer; David R Cox
Journal:  Science       Date:  2005-02-18       Impact factor: 47.728

3.  A new multipoint method for genome-wide association studies by imputation of genotypes.

Authors:  Jonathan Marchini; Bryan Howie; Simon Myers; Gil McVean; Peter Donnelly
Journal:  Nat Genet       Date:  2007-06-17       Impact factor: 38.330

4.  Guilt beyond a reasonable doubt.

Authors:  David Altshuler; Mark Daly
Journal:  Nat Genet       Date:  2007-07       Impact factor: 38.330

5.  PLINK: a tool set for whole-genome association and population-based linkage analyses.

Authors:  Shaun Purcell; Benjamin Neale; Kathe Todd-Brown; Lori Thomas; Manuel A R Ferreira; David Bender; Julian Maller; Pamela Sklar; Paul I W de Bakker; Mark J Daly; Pak C Sham
Journal:  Am J Hum Genet       Date:  2007-07-25       Impact factor: 11.025

6.  Recombination breakpoints in the human beta-globin gene cluster.

Authors:  R A Smith; P J Ho; J B Clegg; J R Kidd; S L Thein
Journal:  Blood       Date:  1998-12-01       Impact factor: 22.113

7.  Genome scanning for segments shared identical by descent among distant relatives in isolated populations.

Authors:  L K Durham; E Feingold
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

8.  Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children.

Authors:  E S Lander; D Botstein
Journal:  Science       Date:  1987-06-19       Impact factor: 47.728

9.  Perspectives of identity by descent (IBD) mapping in founder populations.

Authors:  G J Te Meerman; M A Van der Meulen; L A Sandkuijl
Journal:  Clin Exp Allergy       Date:  1995-11       Impact factor: 5.018

10.  Imputation-based analysis of association studies: candidate regions and quantitative traits.

Authors:  Bertrand Servin; Matthew Stephens
Journal:  PLoS Genet       Date:  2007-05-30       Impact factor: 5.917

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  2000 in total

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Journal:  Nat Genet       Date:  2010-05-09       Impact factor: 38.330

3.  Can a sex-biased human demography account for the reduced effective population size of chromosome X in non-Africans?

Authors:  Alon Keinan; David Reich
Journal:  Mol Biol Evol       Date:  2010-05-07       Impact factor: 16.240

4.  Candidate genes versus genome-wide associations: which are better for detecting genetic susceptibility to infectious disease?

Authors:  W Amos; E Driscoll; J I Hoffman
Journal:  Proc Biol Sci       Date:  2010-10-06       Impact factor: 5.349

5.  Genes and queens.

Authors:  Mark A Jobling
Journal:  Investig Genet       Date:  2011-06-01

6.  Construction of a genetic map based on high-throughput SNP genotyping and genetic mapping of a TuMV resistance locus in Brassica rapa.

Authors:  Hee Chung; Young-Min Jeong; Jeong-Hwan Mun; Soo-Seong Lee; Won-Hyong Chung; Hee-Ju Yu
Journal:  Mol Genet Genomics       Date:  2013-12-11       Impact factor: 3.291

7.  Genotype-based matching to correct for population stratification in large-scale case-control genetic association studies.

Authors:  Weihua Guan; Liming Liang; Michael Boehnke; Gonçalo R Abecasis
Journal:  Genet Epidemiol       Date:  2009-09       Impact factor: 2.135

8.  Genetic modifiers and subtypes in schizophrenia: investigations of age at onset, severity, sex and family history.

Authors:  Sarah E Bergen; Colm T O'Dushlaine; Phil H Lee; Ayman H Fanous; Douglas M Ruderfer; Stephan Ripke; Patrick F Sullivan; Jordan W Smoller; Shaun M Purcell; Aiden Corvin
Journal:  Schizophr Res       Date:  2014-02-26       Impact factor: 4.939

9.  Population genetics and comparative genetics of CLDN1, a gene involved in hepatitis C virus entry.

Authors:  Vincent Bekker; Thomas R O'Brien; Stephen Chanock
Journal:  Hum Hered       Date:  2008-12-15       Impact factor: 0.444

10.  Identification of a polymorphism in the RING finger of human Bmi-1 that causes its degradation by the ubiquitin-proteasome system.

Authors:  Jie Zhang; Kevin D Sarge
Journal:  FEBS Lett       Date:  2009-02-20       Impact factor: 4.124

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