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Volumn 437, Issue 7063, 2005, Pages 1299-1320

A haplotype map of the human genome

(233)  Belmont, John W a   Boudreau, Andrew b   Leal, Suzanne M a   Hardenbol, Paul b   Pasternak, Shiran a   Wheeler, David A a   Willis, Thomas D b   Yu, Fuli a   Yang, Huanming c   Gao, Yang c   Hu, Haoran c   Hu, Weitao c   Li, Chaohua c   Lin, Wei c   Liu, Siqi c   Pan, Hao c   Tang, Xiaoli c   Wang, Jian c   Wang, Wei c   Yu, Jun c   more..


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EID: 79959524146     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature04226     Document Type: Article
Times cited : (4931)

References (103)
  • 3
    • 1842290346 scopus 로고    scopus 로고
    • 506Q mutation is a common risk factor for venous thrombosis
    • 506Q mutation is a common risk factor for venous thrombosis. Thromb. Haemost. 78, 483-488 (1997).
    • (1997) Thromb. Haemost. , vol.78 , pp. 483-488
    • Dahlbäck, B.1
  • 4
    • 0033624575 scopus 로고    scopus 로고
    • The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes
    • Altshuler, D. et al. The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nature Genet. 26, 76-80 (2000).
    • (2000) Nature Genet. , vol.26 , pp. 76-80
    • Altshuler, D.1
  • 5
    • 0031595923 scopus 로고    scopus 로고
    • A Pro12Ala substitution in PPARγ2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity
    • Deeb, S. S. et al. A Pro12Ala substitution in PPARγ2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity. Nature Genet. 20, 284-287 (1998).
    • (1998) Nature Genet. , vol.20 , pp. 284-287
    • Deeb, S.S.1
  • 6
    • 0242524453 scopus 로고    scopus 로고
    • The inherited basis of diabetes mellitus: Implications for the genetic analysis of complex traits
    • Florez, J. C., Hirschhorn, J. & Altshuler, D. The inherited basis of diabetes mellitus: implications for the genetic analysis of complex traits. Annu. Rev. Genomics Hum. Genet. 4, 257-291 (2003).
    • (2003) Annu. Rev. Genomics Hum. Genet. , vol.4 , pp. 257-291
    • Florez, J.C.1    Hirschhorn, J.2    Altshuler, D.3
  • 7
    • 3242713277 scopus 로고    scopus 로고
    • A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis
    • Begovich, A. B. et al. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am. J. Hum. Genet. 75, 330-337 (2004).
    • (2004) Am. J. Hum. Genet. , vol.75 , pp. 330-337
    • Begovich, A.B.1
  • 8
    • 12144291502 scopus 로고    scopus 로고
    • A functional variant of lymphoid tyrosine phosphatase is associated with type i diabetes
    • Bottini, N. et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nature Genet. 36, 337-338 (2004).
    • (2004) Nature Genet. , vol.36 , pp. 337-338
    • Bottini, N.1
  • 9
    • 0021343570 scopus 로고
    • A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus
    • Bell, G. I., Horita, S. & Karam, J. H. A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus. Diabetes 33, 176-183 (1984).
    • (1984) Diabetes , vol.33 , pp. 176-183
    • Bell, G.I.1    Horita, S.2    Karam, J.H.3
  • 10
    • 0037648405 scopus 로고    scopus 로고
    • Assocation of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease
    • Ueda, H. et al. Assocation of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 423, 506-511 (2003).
    • (2003) Nature , vol.423 , pp. 506-511
    • Ueda, H.1
  • 11
    • 0035978533 scopus 로고    scopus 로고
    • A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease
    • Ogura, Y. et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 411, 603-606 (2001).
    • (2001) Nature , vol.411 , pp. 603-606
    • Ogura, Y.1
  • 12
    • 0035978651 scopus 로고    scopus 로고
    • Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
    • Hugot, J. P. et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 411, 599-603 (2001).
    • (2001) Nature , vol.411 , pp. 599-603
    • Hugot, J.P.1
  • 13
    • 20244380171 scopus 로고    scopus 로고
    • Complement factor H polymorphism in age-related macular degeneration
    • Klein, R. J. et al. Complement factor H polymorphism in age-related macular degeneration. Science 308, 385-389 (2005).
    • (2005) Science , vol.308 , pp. 385-389
    • Klein, R.J.1
  • 14
    • 20244388812 scopus 로고    scopus 로고
    • Complement factor H variant increases the risk of agerelated macular degeneration
    • Haines, J. L. et al. Complement factor H variant increases the risk of agerelated macular degeneration. Science 308, 419-421 (2005).
    • (2005) Science , vol.308 , pp. 419-421
    • Haines, J.L.1
  • 15
    • 17244379811 scopus 로고    scopus 로고
    • Complement factor H polymorphism and age-related macular degeneration
    • Edwards, A. O. et al. Complement factor H polymorphism and age-related macular degeneration. Science 308, 421-424 (2005).
    • (2005) Science , vol.308 , pp. 421-424
    • Edwards, A.O.1
  • 16
    • 0028618372 scopus 로고
    • A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease
    • Puffenberger, E. G. et al. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 79, 1257-1266 (1994).
    • (1994) Cell , vol.79 , pp. 1257-1266
    • Puffenberger, E.G.1
  • 17
    • 17244383525 scopus 로고    scopus 로고
    • A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk
    • Emison, E. S. et al. A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature 434, 857-863 (2005).
    • (2005) Nature , vol.434 , pp. 857-863
    • Emison, E.S.1
  • 18
    • 0024423668 scopus 로고
    • Identification of the cystic fibrosis gene: Genetic analysis
    • Kerem, B. et al. Identification of the cystic fibrosis gene: genetic analysis. Science 245, 1073-1080 (1989).
    • (1989) Science , vol.245 , pp. 1073-1080
    • Kerem, B.1
  • 19
    • 0026949420 scopus 로고
    • Linkage disequilibrium mapping in isolated founder populations: Diastrophic dysplasia in Finland
    • Hästbacka, J. et al. Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nature Genet. 2, 204-211 (1992).
    • (1992) Nature Genet. , vol.2 , pp. 204-211
    • Hästbacka, J.1
  • 20
    • 0034977045 scopus 로고    scopus 로고
    • Linkage disequilibrium in humans: Models and data
    • Pritchard, J. K. & Przeworski, M. Linkage disequilibrium in humans: models and data. Am. J. Hum. Genet. 69, 1-14 (2001).
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 1-14
    • Pritchard, J.K.1    Przeworski, M.2
  • 21
    • 0033786787 scopus 로고    scopus 로고
    • Linkage disequilibrium and the search for complex disease genes
    • Jorde, L. B. Linkage disequilibrium and the search for complex disease genes. Genome Res. 10, 1435-1444 (2000).
    • (2000) Genome Res. , vol.10 , pp. 1435-1444
    • Jorde, L.B.1
  • 22
    • 0035837267 scopus 로고    scopus 로고
    • Linkage disequilibrium in the human genome
    • Reich, D. E. et al. Linkage disequilibrium in the human genome. Nature 411, 199-204 (2001).
    • (2001) Nature , vol.411 , pp. 199-204
    • Reich, D.E.1
  • 23
    • 0033039497 scopus 로고    scopus 로고
    • Prospects for whole-genome linkage disequilibrium mapping of common disease genes
    • Kruglyak, L. Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nature Genet. 22, 139-144 (1999).
    • (1999) Nature Genet. , vol.22 , pp. 139-144
    • Kruglyak, L.1
  • 24
    • 0034789532 scopus 로고    scopus 로고
    • Haplotype tagging for the identification of common disease genes
    • Johnson, G. C. et al. Haplotype tagging for the identification of common disease genes. Nature Genet. 29, 233-237 (2001).
    • (2001) Nature Genet. , vol.29 , pp. 233-237
    • Johnson, G.C.1
  • 25
    • 17344364213 scopus 로고    scopus 로고
    • DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene
    • Nickerson, D. A. et al. DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene. Nature Genet. 19, 233-240 (1998).
    • (1998) Nature Genet. , vol.19 , pp. 233-240
    • Nickerson, D.A.1
  • 26
    • 0033764915 scopus 로고    scopus 로고
    • Localization of a small genomic region associated with elevated ACE
    • Zhu, X. et al. Localization of a small genomic region associated with elevated ACE. Am. J. Hum. Genet. 67, 1144-1153 (2000).
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 1144-1153
    • Zhu, X.1
  • 28
    • 0034795550 scopus 로고    scopus 로고
    • Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex
    • Jeffreys, A. J., Kauppi, L. & Neumann, R. Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex. Nature Genet. 29, 217-222 (2001).
    • (2001) Nature Genet. , vol.29 , pp. 217-222
    • Jeffreys, A.J.1    Kauppi, L.2    Neumann, R.3
  • 29
    • 0035941029 scopus 로고    scopus 로고
    • Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21
    • Patil, N. et al. Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science 294, 1719-1723 (2001).
    • (2001) Science , vol.294 , pp. 1719-1723
    • Patil, N.1
  • 30
    • 18444369013 scopus 로고    scopus 로고
    • The structure of haplotype blocks in the human genome
    • Gabriel, S. B. et al. The structure of haplotype blocks in the human genome. Science 296, 2225-2229 (2002).
    • (2002) Science , vol.296 , pp. 2225-2229
    • Gabriel, S.B.1
  • 31
    • 79959503826 scopus 로고    scopus 로고
    • The international hapmap project
    • The International HapMap Consortium
    • The International HapMap Consortium. The International HapMap Project. Nature 426, 789-796 (2003).
    • (2003) Nature , vol.426 , pp. 789-796
  • 32
    • 3142773390 scopus 로고    scopus 로고
    • Integrating ethics and science in the International HapMap Project
    • The International HapMap Consortium
    • The International HapMap Consortium. Integrating ethics and science in the International HapMap Project. Nature Rev. Genet. 5, 467-475 (2004).
    • (2004) Nature Rev. Genet. , vol.5 , pp. 467-475
  • 33
    • 7444260846 scopus 로고    scopus 로고
    • The ENCODE (ENCyclopedia of DNA elements) project
    • The ENCODE Project Consortium
    • The ENCODE Project Consortium. The ENCODE (ENCyclopedia Of DNA Elements) Project. Science 306, 636-640 (2004).
    • (2004) Science , vol.306 , pp. 636-640
  • 34
    • 18344366125 scopus 로고    scopus 로고
    • Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups
    • Herrnstadt, C. et al. Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. Am. J. Hum. Genet. 70, 1152-1171 (2002).
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 1152-1171
    • Herrnstadt, C.1
  • 35
    • 0042766533 scopus 로고    scopus 로고
    • The human y chromosome: An evolutionary marker comes of age
    • Jobling, M. A. & Tyler-Smith, C. The human Y chromosome: an evolutionary marker comes of age. Nature Rev. Genet. 4, 598-612 (2003).
    • (2003) Nature Rev. Genet. , vol.4 , pp. 598-612
    • Jobling, M.A.1    Tyler-Smith, C.2
  • 36
    • 0036178949 scopus 로고    scopus 로고
    • A nomenclature system for the tree of human Y-chromosomal binary haplogroups
    • The Y Chromosome Consortium
    • The Y Chromosome Consortium. A nomenclature system for the tree of human Y-chromosomal binary haplogroups. Genome Res. 12, 339-348 (2002).
    • (2002) Genome Res. , vol.12 , pp. 339-348
  • 37
    • 0034744362 scopus 로고    scopus 로고
    • The phylogeography of y chromosome binary haplotypes and the origins of modern human populations
    • Underhill, P. A. et al. The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations. Ann. Hum. Genet. 65, 43-62 (2001).
    • (2001) Ann. Hum. Genet. , vol.65 , pp. 43-62
    • Underhill, P.A.1
  • 38
    • 33344458848 scopus 로고    scopus 로고
    • A comparison of phasing algorithms for trios and unrelated individuals
    • in the press
    • Marchini, J. et al. A comparison of phasing algorithms for trios and unrelated individuals. Am. J. Hum. Genet, (in the press).
    • Am. J. Hum. Genet
    • Marchini, J.1
  • 39
    • 0242691208 scopus 로고    scopus 로고
    • A comparison of Bayesian methods for haplotype reconstruction from population genotype data
    • Stephens, M. & Donnelly, P. A comparison of Bayesian methods for haplotype reconstruction from population genotype data. Am. J. Hum. Genet. 73, 1162-1169 (2003).
    • (2003) Am. J. Hum. Genet. , vol.73 , pp. 1162-1169
    • Stephens, M.1    Donnelly, P.2
  • 41
    • 0037147189 scopus 로고    scopus 로고
    • Genetic structure of human populations
    • Rosenberg, N. A. et al. Genetic structure of human populations. Science 298, 2381-2385 (2002).
    • (2002) Science , vol.298 , pp. 2381-2385
    • Rosenberg, N.A.1
  • 42
    • 0347361674 scopus 로고    scopus 로고
    • Modeling linkage disequilibrium and identifying recombination hotspots using single-nucleotide polymorphism data
    • Li, N. & Stephens, M. Modeling linkage disequilibrium and identifying recombination hotspots using single-nucleotide polymorphism data. Genetics 165, 2213-2233 (2003).
    • (2003) Genetics , vol.165 , pp. 2213-2233
    • Li, N.1    Stephens, M.2
  • 43
    • 79959548166 scopus 로고    scopus 로고
    • Reconciling estimates of linkage disequilibrium in the human genome
    • submitted
    • Pe'er, I. et al. Reconciling estimates of linkage disequilibrium in the human genome. Genome Res. (submitted).
    • Genome Res
    • Pe'Er, I.1
  • 44
    • 0029587470 scopus 로고
    • Meiotic recombination hotspots
    • Lichten, M. & Goldman, A. S. Meiotic recombination hotspots. Annu. Rev. Genet. 29, 423-444(1995).
    • (1995) Annu. Rev. Genet. , vol.29 , pp. 423-444
    • Lichten, M.1    Goldman, A.S.2
  • 45
    • 1542563409 scopus 로고    scopus 로고
    • Initial sequencing and comparative analysis of the mouse genome
    • Mouse Genome Sequencing Consortium
    • Mouse Genome Sequencing Consortium. Initial sequencing and comparative analysis of the mouse genome. Nature 420, 520-562 (2002).
    • (2002) Nature , vol.420 , pp. 520-562
  • 46
    • 2142773942 scopus 로고    scopus 로고
    • The fine-scale structure of recombination rate variation in the human genome
    • McVean, G. A. et al. The fine-scale structure of recombination rate variation in the human genome. Science 304, 581-584 (2004).
    • (2004) Science , vol.304 , pp. 581-584
    • McVean, G.A.1
  • 47
    • 3042700117 scopus 로고    scopus 로고
    • Evidence for substantial fine-scale variation in recombination rates across the human genome
    • Crawford, D. C. et al. Evidence for substantial fine-scale variation in recombination rates across the human genome. Nature Genet. 36, 700-706 (2004).
    • (2004) Nature Genet. , vol.36 , pp. 700-706
    • Crawford, D.C.1
  • 48
    • 18544381909 scopus 로고    scopus 로고
    • A high-resolution recombination map of the human genome
    • Kong, A. et al. A high-resolution recombination map of the human genome. Nature Genet. 31, 241-247 (2002).
    • (2002) Nature Genet. , vol.31 , pp. 241-247
    • Kong, A.1
  • 49
    • 20144387806 scopus 로고    scopus 로고
    • Comparison of fine-scale recombination rates in humans and chimpanzees
    • Winckler, W. et al. Comparison of fine-scale recombination rates in humans and chimpanzees. Science 308, 107-111 (2005).
    • (2005) Science , vol.308 , pp. 107-111
    • Winckler, W.1
  • 50
    • 0037279717 scopus 로고    scopus 로고
    • Bounds on the minimum number of recombination events in a sample history
    • Myers, S. R. & Griffiths, R. C. Bounds on the minimum number of recombination events in a sample history. Genetics 163, 375-394 (2003).
    • (2003) Genetics , vol.163 , pp. 375-394
    • Myers, S.R.1    Griffiths, R.C.2
  • 51
    • 0022211482 scopus 로고
    • Statistical properties of the number of recombination events in the history of a sample of DNA sequences
    • Hudson, R. R. & Kaplan, N. L. Statistical properties of the number of recombination events in the history of a sample of DNA sequences. Genetics 111, 147-164(1985).
    • (1985) Genetics , vol.111 , pp. 147-164
    • Hudson, R.R.1    Kaplan, N.L.2
  • 52
    • 0037370466 scopus 로고    scopus 로고
    • Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots
    • Phillips, M. S. et al. Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots. Nature Genet. 33, 382-387 (2003).
    • (2003) Nature Genet. , vol.33 , pp. 382-387
    • Phillips, M.S.1
  • 53
    • 0344033602 scopus 로고    scopus 로고
    • Detecting disease associations due to linkage disequilibrium using haplotype tags: A class of tests and the determinants of statistical power
    • Chapman, J. M., Cooper, J. D., Todd, J. A. & Clayton, D. G. Detecting disease associations due to linkage disequilibrium using haplotype tags: a class of tests and the determinants of statistical power. Hum. Hered. 56, 18-31 (2003).
    • (2003) Hum. Hered. , vol.56 , pp. 18-31
    • Chapman, J.M.1    Cooper, J.D.2    Todd, J.A.3    Clayton, D.G.4
  • 54
    • 0346373654 scopus 로고    scopus 로고
    • Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium
    • Carlson, C. S. et al. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am. J. Hum. Genet. 74, 106-120 (2004).
    • (2004) Am. J. Hum. Genet. , vol.74 , pp. 106-120
    • Carlson, C.S.1
  • 55
    • 27644439141 scopus 로고    scopus 로고
    • Efficiency and power in genetic association studies
    • Advance online publication, 23 October doi: 10.1038/ ng1669
    • de Bakker, P. I. W. et al. Efficiency and power in genetic association studies. Nature Genet. Advance online publication, 23 October 2005 (doi: 10.1038/ ng1669).
    • (2005) Nature Genet.
    • De Bakker, P.I.W.1
  • 56
    • 13144282294 scopus 로고    scopus 로고
    • Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies
    • Lin, S., Chakravarti, A. & Cutler, D. J. Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies. Nature Genet. 36, 1181-1188 (2004).
    • (2004) Nature Genet. , vol.36 , pp. 1181-1188
    • Lin, S.1    Chakravarti, A.2    Cutler, D.J.3
  • 57
    • 0042387804 scopus 로고    scopus 로고
    • Selection and evaluation of tagging SNPs in the neuronalsodium-channel gene SCNIA: Implications for linkage-disequilibrium gene mapping
    • Weale, M. E. et al. Selection and evaluation of tagging SNPs in the neuronalsodium-channel gene SCNIA: implications for linkage-disequilibrium gene mapping. Am. J. Hum. Genet. 73, 551-565 (2003).
    • (2003) Am. J. Hum. Genet. , vol.73 , pp. 551-565
    • Weale, M.E.1
  • 58
    • 0043175289 scopus 로고    scopus 로고
    • Choosing haplotype-tagging SNPs based on unphased genotype data using a preliminary sample of unrelated subjects with an example from the Multiethnic Cohort Study
    • Stram, D. O. et al. Choosing haplotype-tagging SNPs based on unphased genotype data using a preliminary sample of unrelated subjects with an example from the Multiethnic Cohort Study. Hum. Hered. 55, 27-36 (2003).
    • (2003) Hum. Hered. , vol.55 , pp. 27-36
    • Stram, D.O.1
  • 59
    • 0032514681 scopus 로고    scopus 로고
    • Linkage disequilibrium mapping in isolated populations: The example of Finland revisited
    • de la Chapelle, A. & Wright, F. A. Linkage disequilibrium mapping in isolated populations: the example of Finland revisited. Proc. Natl Acad. Sci. USA 95, 12416-12423 (1998).
    • (1998) Proc. Natl Acad. Sci. USA , vol.95 , pp. 12416-12423
    • De La Chapelle, A.1    Wright, F.A.2
  • 60
    • 0037458031 scopus 로고    scopus 로고
    • Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics
    • Mootha, V. K. et al. Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc. Natl Acad. Sci. USA 100, 605-610 (2003).
    • (2003) Proc. Natl Acad. Sci. USA , vol.100 , pp. 605-610
    • Mootha, V.K.1
  • 61
    • 0343384355 scopus 로고    scopus 로고
    • ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF
    • Engert, J. C. et al. ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nature Genet. 24, 120-125 (2000).
    • (2000) Nature Genet. , vol.24 , pp. 120-125
    • Engert, J.C.1
  • 62
    • 0033361944 scopus 로고    scopus 로고
    • Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11
    • Richter, A. et al. Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. Am. J. Hum. Genet. 64, 768-775 (1999).
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 768-775
    • Richter, A.1
  • 63
    • 0024209791 scopus 로고
    • Admixture as a tool for finding linked genes and detecting that difference from allelic association between loci
    • Chakraborty, R. & Weiss, K. M. Admixture as a tool for finding linked genes and detecting that difference from allelic association between loci. Proc. Natl Acad. Sci. USA 85, 9119-9123 (1988).
    • (1988) Proc. Natl Acad. Sci. USA , vol.85 , pp. 9119-9123
    • Chakraborty, R.1    Weiss, K.M.2
  • 64
    • 22944467804 scopus 로고    scopus 로고
    • Mapping by admixture linkage disequilibrium: Advances, limitations and guidelines
    • Smith, M. W. & O'Brien, S. J. Mapping by admixture linkage disequilibrium: advances, limitations and guidelines. Nature Rev. Genet. 6, 623-632 (2005).
    • (2005) Nature Rev. Genet. , vol.6 , pp. 623-632
    • Smith, M.W.1    O'Brien, S.J.2
  • 65
    • 2342597140 scopus 로고    scopus 로고
    • A high-density admixture map for disease gene discovery in African Americans
    • Smith, M. W. et al. A high-density admixture map for disease gene discovery in African Americans. Am. J. Hum. Genet. 74, 1001-1013 (2004).
    • (2004) Am. J. Hum. Genet. , vol.74 , pp. 1001-1013
    • Smith, M.W.1
  • 66
    • 13944250687 scopus 로고    scopus 로고
    • Admixture mapping for hypertension loci with genome-scan markers
    • Zhu, X. et al. Admixture mapping for hypertension loci with genome-scan markers. Nature Genet. 37, 177-181 (2005).
    • (2005) Nature Genet. , vol.37 , pp. 177-181
    • Zhu, X.1
  • 67
    • 2342453338 scopus 로고    scopus 로고
    • An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays
    • Zhao, X. et al. An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays. Cancer Res. 64, 3060-3071 (2004).
    • (2004) Cancer Res. , vol.64 , pp. 3060-3071
    • Zhao, X.1
  • 68
    • 10844232112 scopus 로고    scopus 로고
    • Whole genome DNA copy number changes identified by high density oligonucleotide arrays
    • Huang, J. et al. Whole genome DNA copy number changes identified by high density oligonucleotide arrays. Hum. Genomics 1, 287-299 (2004).
    • (2004) Hum. Genomics , vol.1 , pp. 287-299
    • Huang, J.1
  • 69
    • 4444291843 scopus 로고    scopus 로고
    • Detection of large-scale variation in the human genome
    • Iafrate, A. J. et al. Detection of large-scale variation in the human genome. Nature Genet. 36, 949-951 (2004).
    • (2004) Nature Genet. , vol.36 , pp. 949-951
    • Iafrate, A.J.1
  • 70
    • 3242808027 scopus 로고    scopus 로고
    • Large-scale copy number polymorphism in the human genome
    • Sebat, J. et al. Large-scale copy number polymorphism in the human genome. Science 305, 525-528 (2004).
    • (2004) Science , vol.305 , pp. 525-528
    • Sebat, J.1
  • 71
    • 0036468807 scopus 로고    scopus 로고
    • Genome architecture, rearrangements and genomic disorders
    • Stankiewicz, P. & Lupski, J. R. Genome architecture, rearrangements and genomic disorders. Trends Genet. 18, 74-82 (2002).
    • (2002) Trends Genet. , vol.18 , pp. 74-82
    • Stankiewicz, P.1    Lupski, J.R.2
  • 72
    • 20044377204 scopus 로고    scopus 로고
    • The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility
    • Gonzalez, E. et al. The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 307, 1434-1440 (2005).
    • (2005) Science , vol.307 , pp. 1434-1440
    • Gonzalez, E.1
  • 73
    • 0242300619 scopus 로고    scopus 로고
    • α-Synuclein locus triplication causes Parkinson's disease
    • Singleton, A. B. et al. α-Synuclein locus triplication causes Parkinson's disease. Science 302, 841 (2003).
    • (2003) Science , vol.302 , pp. 841
    • Singleton, A.B.1
  • 74
    • 79959539278 scopus 로고    scopus 로고
    • Common deletion variants in the human genome
    • in the press
    • McCarroll, S. et al. Common deletion variants in the human genome. Nature Genet, (in the press).
    • Nature Genet
    • McCarroll, S.1
  • 75
    • 13944278863 scopus 로고    scopus 로고
    • A common inversion under selection in Europeans
    • Stefansson, H. et al. A common inversion under selection in Europeans. Nature Genet. 37, 129-137 (2005).
    • (2005) Nature Genet. , vol.37 , pp. 129-137
    • Stefansson, H.1
  • 76
    • 26844482093 scopus 로고    scopus 로고
    • A fine-scale map of recombination rates and recombination hotspots in the human genome
    • Myers, S., Bottolo, L., Freeman, C., McVean, G. & Donnelly, P. A fine-scale map of recombination rates and recombination hotspots in the human genome. Science 310, 321-324 (2005).
    • (2005) Science , vol.310 , pp. 321-324
    • Myers, S.1    Bottolo, L.2    Freeman, C.3    McVean, G.4    Donnelly, P.5
  • 77
    • 13844313862 scopus 로고    scopus 로고
    • Whole-genome patterns of common DNA variation in three human populations
    • Hinds, D. A. et al. Whole-genome patterns of common DNA variation in three human populations. Science 307, 1072-1079 (2005).
    • (2005) Science , vol.307 , pp. 1072-1079
    • Hinds, D.A.1
  • 78
    • 0035865094 scopus 로고    scopus 로고
    • Comparison of human genetic and sequence-based physical maps
    • Yu, A. et al. Comparison of human genetic and sequence-based physical maps. Nature 409, 951-953 (2001).
    • (2001) Nature , vol.409 , pp. 951-953
    • Yu, A.1
  • 79
    • 0032231877 scopus 로고    scopus 로고
    • Comprehensive human genetic maps: Individual and sex-specific variation in recombination
    • Broman, K. W., Murray, J. C., Sheffield, V. C., White, R. L & Weber, J. L Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am. J. Hum. Genet. 63, 861-869 (1998).
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 861-869
    • Broman, K.W.1    Murray, J.C.2    Sheffield, V.C.3    White, R.4    Weber, J.L.5
  • 80
    • 0026446099 scopus 로고
    • A second-generation linkage map of the human genome
    • Weissenbach, J. et al. A second-generation linkage map of the human genome. Nature 359, 794-801 (1992).
    • (1992) Nature , vol.359 , pp. 794-801
    • Weissenbach, J.1
  • 81
    • 0034989085 scopus 로고    scopus 로고
    • Local rates of recombination are positively correlated with GC content in the human genome
    • Fullerton, S. M., Bernardo Carvalho, A. & Clark, A. G. Local rates of recombination are positively correlated with GC content in the human genome. Mol. Biol. Evol. 18, 1139-1142 (2001).
    • (2001) Mol. Biol. Evol. , vol.18 , pp. 1139-1142
    • Fullerton, S.M.1    Bernardo Carvalho, A.2    Clark, A.G.3
  • 82
    • 18444396271 scopus 로고    scopus 로고
    • A first-generation linkage disequilibrium map of human chromosome 22
    • Dawson, E. et al. A first-generation linkage disequilibrium map of human chromosome 22. Nature 418, 544-548 (2002).
    • (2002) Nature , vol.418 , pp. 544-548
    • Dawson, E.1
  • 83
    • 0026529344 scopus 로고
    • Levels of naturally occurring DNA polymorphism correlate with recombination rates in D. melanogaster
    • Begun, D. J. & Aquadro, C. F. Levels of naturally occurring DNA polymorphism correlate with recombination rates in D. melanogaster. Nature 356, 519-520 (1992).
    • (1992) Nature , vol.356 , pp. 519-520
    • Begun, D.J.1    Aquadro, C.F.2
  • 84
    • 27544435335 scopus 로고    scopus 로고
    • Sequence features in regions of weak and strong linkage disequilibrium
    • Smith, A. V., Thomas, D. J., Munro, H. M. & Abecasis, G. R. Sequence features in regions of weak and strong linkage disequilibrium. Genome Res. 15, 1519-1534 (2005).
    • (2005) Genome Res. , vol.15 , pp. 1519-1534
    • Smith, A.V.1    Thomas, D.J.2    Munro, H.M.3    Abecasis, G.R.4
  • 85
    • 0034069495 scopus 로고    scopus 로고
    • Gene ontology: Tool for the unification of biology
    • The Gene Ontology Consortium
    • The Gene Ontology Consortium. Gene ontology: tool for the unification of biology. Nature Genet. 25, 25-29 (2000).
    • (2000) Nature Genet. , vol.25 , pp. 25-29
  • 86
    • 0038379170 scopus 로고    scopus 로고
    • Advantage of rare HLA supertype in HIV disease progression
    • Trachtenberg, E. et al. Advantage of rare HLA supertype in HIV disease progression. Nature Med. 9, 928-935 (2003).
    • (2003) Nature Med. , vol.9 , pp. 928-935
    • Trachtenberg, E.1
  • 87
    • 0032526621 scopus 로고    scopus 로고
    • Evolutionary conservation of histone macroH2A subtypes and domains
    • Pehrson, J. R. & Fuji, R. N. Evolutionary conservation of histone macroH2A subtypes and domains. Nucleic Acids Res. 26, 2837-2842 (1998).
    • (1998) Nucleic Acids Res. , vol.26 , pp. 2837-2842
    • Pehrson, J.R.1    Fuji, R.N.2
  • 88
    • 0029943449 scopus 로고    scopus 로고
    • Mismatch repair in replication fidelity, genetic recombination, and cancer biology
    • Modrich, P. & Lahue, R. Mismatch repair in replication fidelity, genetic recombination, and cancer biology. Annu. Rev. Biochem. 65, 101-133 (1996).
    • (1996) Annu. Rev. Biochem. , vol.65 , pp. 101-133
    • Modrich, P.1    Lahue, R.2
  • 89
    • 15244363492 scopus 로고    scopus 로고
    • Human genomics: Disclosure of variation
    • Nielsen, R. Human genomics: disclosure of variation. Nature 434, 288-289 (2005).
    • (2005) Nature , vol.434 , pp. 288-289
    • Nielsen, R.1
  • 90
    • 0036479030 scopus 로고    scopus 로고
    • Identification of a variant associated with adult-type hypolactasia
    • Enattah, N. S. et al. Identification of a variant associated with adult-type hypolactasia. Nature Genet. 30, 233-237 (2002).
    • (2002) Nature Genet. , vol.30 , pp. 233-237
    • Enattah, N.S.1
  • 91
    • 2442677652 scopus 로고    scopus 로고
    • Genetic signatures of strong recent positive selection at the lactase gene
    • Bersaglieri, T. et al. Genetic signatures of strong recent positive selection at the lactase gene. Am. J. Hum. Genet. 74, 1111-1120 (2004).
    • (2004) Am. J. Hum. Genet. , vol.74 , pp. 1111-1120
    • Bersaglieri, T.1
  • 92
    • 0037167852 scopus 로고    scopus 로고
    • Detecting recent positive selection in the human genome from haplotype structure
    • Sabeti, P. C. et al. Detecting recent positive selection in the human genome from haplotype structure. Nature 419, 832-837 (2002).
    • (2002) Nature , vol.419 , pp. 832-837
    • Sabeti, P.C.1
  • 93
    • 18744395183 scopus 로고    scopus 로고
    • Numerous potentially functional but non-genic conserved sequences on human chromosome 21
    • Dermitzakis, E. T. et al. Numerous potentially functional but non-genic conserved sequences on human chromosome 21. Nature 420, 578-582 (2002).
    • (2002) Nature , vol.420 , pp. 578-582
    • Dermitzakis, E.T.1
  • 94
    • 10744222156 scopus 로고    scopus 로고
    • Identification and characterization of multi-species conserved sequences
    • Margulies, E. H., Blanchette, M., Haussler, D. & Green, E. D. Identification and characterization of multi-species conserved sequences. Genome Res. 13, 2507-2518 (2003).
    • (2003) Genome Res. , vol.13 , pp. 2507-2518
    • Margulies, E.H.1    Blanchette, M.2    Haussler, D.3    Green, E.D.4
  • 95
    • 22844448777 scopus 로고    scopus 로고
    • Priorities and standards in pharmacogenetic research
    • Need, A. C., Motulsky, A. G. & Goldstein, D. B. Priorities and standards in pharmacogenetic research. Nature Genet. 37, 671-681 (2005).
    • (2005) Nature Genet. , vol.37 , pp. 671-681
    • Need, A.C.1    Motulsky, A.G.2    Goldstein, D.B.3
  • 96
    • 23644434284 scopus 로고    scopus 로고
    • Genetic interactions between polymorphisms that affect gene expression in yeast
    • Brem, R. B., Storey, J. D., Whittle, J. & Kruglyak, L. Genetic interactions between polymorphisms that affect gene expression in yeast. Nature 436, 701-703 (2005).
    • (2005) Nature , vol.436 , pp. 701-703
    • Brem, R.B.1    Storey, J.D.2    Whittle, J.3    Kruglyak, L.4
  • 97
    • 10744231402 scopus 로고    scopus 로고
    • Whole-genome shotgun assembly and comparison of human genome assemblies
    • Istrail, S. et al. Whole-genome shotgun assembly and comparison of human genome assemblies. Proc. Natl Acad. Sci. USA 101, 1916-1921 (2004).
    • (2004) Proc. Natl Acad. Sci. USA , vol.101 , pp. 1916-1921
    • Istrail, S.1
  • 98
    • 0035895505 scopus 로고    scopus 로고
    • The sequence of the human genome
    • Venter, J. C. et al. The sequence of the human genome. Science 291, 1304-1351 (2001).
    • (2001) Science , vol.291 , pp. 1304-1351
    • Venter, J.C.1
  • 99
    • 24344500211 scopus 로고    scopus 로고
    • Initial sequence of the chimpanzee genome and comparison with the human genome
    • The Chimpanzee Sequencing and Analysis Consortium
    • The Chimpanzee Sequencing and Analysis Consortium. Initial sequence of the chimpanzee genome and comparison with the human genome. Nature 437, 69-87 (2005).
    • (2005) Nature , vol.437 , pp. 69-87
  • 100
    • 20844455582 scopus 로고    scopus 로고
    • Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays
    • Matsuzaki, H. et al. Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays. Nature Methods 1, 109-111 (2004).
    • (2004) Nature Methods , vol.1 , pp. 109-111
    • Matsuzaki, H.1
  • 101
    • 0037047628 scopus 로고    scopus 로고
    • Recent segmental duplications in the human genome
    • Bailey, J. A. et al. Recent segmental duplications in the human genome. Science 297, 1003-1007(2002).
    • (2002) Science , vol.297 , pp. 1003-1007
    • Bailey, J.A.1
  • 102
  • 103
    • 0028298036 scopus 로고
    • Maximum-likelihood estimation of gene location by linkage disequilibrium
    • Hill, W. G. & Weir, B. S. Maximum-likelihood estimation of gene location by linkage disequilibrium. Am. J. Hum. Genet. 54, 705-714 (1994).
    • (1994) Am. J. Hum. Genet. , vol.54 , pp. 705-714
    • Hill, W.G.1    Weir, B.S.2


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