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Volumn 1, Issue 4, 2005, Pages 0413-0418

Perspectives on human genetic variation from the HapMap project

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CHROMOSOME MAP; GENE LINKAGE DISEQUILIBRIUM; GENETIC VARIABILITY; GENOME; HUMAN; MOLECULAR EVOLUTION; POPULATION GENETICS; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 32944481700     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.0010054     Document Type: Review
Times cited : (79)

References (51)
  • 1
    • 13144306071 scopus 로고    scopus 로고
    • Genome-wide association studies for common diseases and complex traits
    • Hirschhorn JN, Daly MJ (2005) Genome-wide association studies for common diseases and complex traits. Nat Rev Genet 6: 95-108.
    • (2005) Nat Rev Genet , vol.6 , pp. 95-108
    • Hirschhorn, J.N.1    Daly, M.J.2
  • 2
    • 0033930144 scopus 로고    scopus 로고
    • Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28
    • Taillon-Miller P, Bauer-Sardina I, Saccone NL, Putzel J, Laitinen T, et al. (2000) Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28. Nat Genet 25: 324-328.
    • (2000) Nat Genet , vol.25 , pp. 324-328
    • Taillon-Miller, P.1    Bauer-Sardina, I.2    Saccone, N.L.3    Putzel, J.4    Laitinen, T.5
  • 5
    • 0035941029 scopus 로고    scopus 로고
    • Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21
    • Patil N, Berno AJ, Hinds DA, Barrett WA, Doshi JM, et al. (2001) Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science 294: 1719-1723.
    • (2001) Science , vol.294 , pp. 1719-1723
    • Patil, N.1    Berno, A.J.2    Hinds, D.A.3    Barrett, W.A.4    Doshi, J.M.5
  • 7
    • 18444396271 scopus 로고    scopus 로고
    • A first-generation linkage disequilibrium map of human chromosome 22
    • Dawson E, Abecasis GR, Bumpstead S, Chen Y, Hunt S, et al. (2002) A first-generation linkage disequilibrium map of human chromosome 22. Nature 418: 544-548.
    • (2002) Nature , vol.418 , pp. 544-548
    • Dawson, E.1    Abecasis, G.R.2    Bumpstead, S.3    Chen, Y.4    Hunt, S.5
  • 9
    • 0037370466 scopus 로고    scopus 로고
    • Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots
    • Phillips MS, Lawrence R, Sachidanandam R, Morris AP, Balding DJ, et al. (2003) Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots. Nat Genet 33: 382-387.
    • (2003) Nat Genet , vol.33 , pp. 382-387
    • Phillips, M.S.1    Lawrence, R.2    Sachidanandam, R.3    Morris, A.P.4    Balding, D.J.5
  • 10
    • 0034795550 scopus 로고    scopus 로고
    • Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex
    • Jeffreys AJ, Kauppi L, Neumann R (2001) Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex. Nat Genet 29: 217-222.
    • (2001) Nat Genet , vol.29 , pp. 217-222
    • Jeffreys, A.J.1    Kauppi, L.2    Neumann, R.3
  • 11
    • 3042700117 scopus 로고    scopus 로고
    • Evidence for substantial fine-scale variation in recombination rates across the human genome
    • Crawford DC, Bhangale T, Li N, Hellenthal G, Rieder MJ, et al. (2004) Evidence for substantial fine-scale variation in recombination rates across the human genome. Nat Genet 36: 700-706.
    • (2004) Nat Genet , vol.36 , pp. 700-706
    • Crawford, D.C.1    Bhangale, T.2    Li, N.3    Hellenthal, G.4    Rieder, M.J.5
  • 12
    • 2142773942 scopus 로고    scopus 로고
    • The fine-scale structure of recombination rate variation in the human genome
    • McVean GA, Myers SR, Hunt S, Deloukas P, Bentley DR, et al. (2004) The fine-scale structure of recombination rate variation in the human genome. Science 304: 581-584.
    • (2004) Science , vol.304 , pp. 581-584
    • McVean, G.A.1    Myers, S.R.2    Hunt, S.3    Deloukas, P.4    Bentley, D.R.5
  • 13
    • 13144265739 scopus 로고    scopus 로고
    • Genome-wide association studies: Theoretical and practical concerns
    • Wang WY, Barratt BJ, Clayton DG, Todd JA (2005) Genome-wide association studies: Theoretical and practical concerns. Nat Rev Genet 6: 109-118.
    • (2005) Nat Rev Genet , vol.6 , pp. 109-118
    • Wang, W.Y.1    Barratt, B.J.2    Clayton, D.G.3    Todd, J.A.4
  • 14
    • 79959503826 scopus 로고    scopus 로고
    • The International HapMap Project
    • The International HapMap Consortium (2003) The International HapMap Project. Nature 426: 789-796.
    • (2003) Nature , vol.426 , pp. 789-796
  • 15
    • 79959524146 scopus 로고    scopus 로고
    • A haplotype map of the human genome
    • In press
    • The International HapMap Consortium (2005) A haplotype map of the human genome. Nature. In press.
    • (2005) Nature
  • 16
    • 13144282294 scopus 로고    scopus 로고
    • Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies
    • Lin S, Chakravarti A, Cutler DJ (2004) Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies. Nat Genet 36: 1181-1188.
    • (2004) Nat Genet , vol.36 , pp. 1181-1188
    • Lin, S.1    Chakravarti, A.2    Cutler, D.J.3
  • 17
    • 16844366786 scopus 로고    scopus 로고
    • Genome-wide strategies for detecting multiple loci that influence complex diseases
    • Marchini J, Donnelly P, Cardon LR (2005) Genome-wide strategies for detecting multiple loci that influence complex diseases. Nat Genet 37: 413-417.
    • (2005) Nat Genet , vol.37 , pp. 413-417
    • Marchini, J.1    Donnelly, P.2    Cardon, L.R.3
  • 18
    • 15944383403 scopus 로고    scopus 로고
    • Gene-environment interactions in human diseases
    • Hunter DJ (2005) Gene-environment interactions in human diseases. Nat Rev Genet 6: 287-298.
    • (2005) Nat Rev Genet , vol.6 , pp. 287-298
    • Hunter, D.J.1
  • 19
    • 0037461782 scopus 로고    scopus 로고
    • The mosaic that is our genome
    • Paabo S (2003) The mosaic that is our genome. Nature 421: 409-412.
    • (2003) Nature , vol.421 , pp. 409-412
    • Paabo, S.1
  • 20
    • 33646226097 scopus 로고
    • Linkage disequilibrium in finite populations
    • Hill WG, Robertson A (1968) Linkage disequilibrium in finite populations. Theor Appl Genet 38: 226-231.
    • (1968) Theor Appl Genet , vol.38 , pp. 226-231
    • Hill, W.G.1    Robertson, A.2
  • 21
    • 0034977045 scopus 로고    scopus 로고
    • Linkage disequilibrium in humans: Models and data
    • Pritchard JK, Przeworski M (2001) Linkage disequilibrium in humans: Models and data. Am J Hum Genet 69: 1-14.
    • (2001) Am J Hum Genet , vol.69 , pp. 1-14
    • Pritchard, J.K.1    Przeworski, M.2
  • 22
    • 0023430504 scopus 로고
    • Gametic disequilibrium measures: Proceed with caution
    • Hedrick PW (1987) Gametic disequilibrium measures: Proceed with caution. Genetics 117: 331-341.
    • (1987) Genetics , vol.117 , pp. 331-341
    • Hedrick, P.W.1
  • 23
    • 0034809334 scopus 로고    scopus 로고
    • Statistical tests of selective neutrality in the age of genomics
    • Nielsen R (2001) Statistical tests of selective neutrality in the age of genomics. Heredity 86: 641-647.
    • (2001) Heredity , vol.86 , pp. 641-647
    • Nielsen, R.1
  • 24
    • 0242524432 scopus 로고    scopus 로고
    • Patterns of human genetic diversity: Implications for human evolutionary history and disease
    • Tishkoff SA, Verrelli BC (2003) Patterns of human genetic diversity: Implications for human evolutionary history and disease. Annu Rev Genomics Hum Genet 4: 293-340.
    • (2003) Annu Rev Genomics Hum Genet , vol.4 , pp. 293-340
    • Tishkoff, S.A.1    Verrelli, B.C.2
  • 25
    • 0037167852 scopus 로고    scopus 로고
    • Detecting recent positive selection in the human genome from haplotype structure
    • Sabeti PC, Reich DE, Higgins JM, Levine HZ, Richter DJ, et al. (2002) Detecting recent positive selection in the human genome from haplotype structure. Nature 419: 832-837.
    • (2002) Nature , vol.419 , pp. 832-837
    • Sabeti, P.C.1    Reich, D.E.2    Higgins, J.M.3    Levine, H.Z.4    Richter, D.J.5
  • 26
    • 0035653671 scopus 로고    scopus 로고
    • Genetics of susceptibility to human infectious disease
    • Cooke GS, Hill AV (2001) Genetics of susceptibility to human infectious disease. Nat Rev Genet 2: 967-977.
    • (2001) Nat Rev Genet , vol.2 , pp. 967-977
    • Cooke, G.S.1    Hill, A.V.2
  • 28
    • 0024313579 scopus 로고
    • Statistical method for testing the neutral mutation hypothesis by DNA polymorphism
    • Tajima F (1989) Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics 123: 585-595.
    • (1989) Genetics , vol.123 , pp. 585-595
    • Tajima, F.1
  • 29
    • 0033911640 scopus 로고    scopus 로고
    • Hitchhiking under positive Darwinian selection
    • Fay JC, Wu CI (2000) Hitchhiking under positive Darwinian selection. Genetics 155: 1405-1413.
    • (2000) Genetics , vol.155 , pp. 1405-1413
    • Fay, J.C.1    Wu, C.I.2
  • 30
    • 0032884643 scopus 로고    scopus 로고
    • Recombination and the power of statistical tests of neutrality
    • Wall J (1999) Recombination and the power of statistical tests of neutrality. Genet Res 74: 65-79.
    • (1999) Genet Res , vol.74 , pp. 65-79
    • Wall, J.1
  • 31
    • 1542329549 scopus 로고    scopus 로고
    • Adaptive evolution of ASPM, a major determinant of cerebral cortical size in humans
    • Evans PD, Anderson JR, Vallender EJ, Gilbert SL, Malcom CM, et al. (2004) Adaptive evolution of ASPM, a major determinant of cerebral cortical size in humans. Hum Mol Genet 13: 489-494.
    • (2004) Hum Mol Genet , vol.13 , pp. 489-494
    • Evans, P.D.1    Anderson, J.R.2    Vallender, E.J.3    Gilbert, S.L.4    Malcom, C.M.5
  • 32
    • 19344374302 scopus 로고    scopus 로고
    • Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion
    • DOI: 10.1371/journal.pbio.0020126
    • Kouprina N, Pavlicek A, Mochida GH, Solomon G, Gersch W, et al. (2004) Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion. PLoS Biol 2: DOI: 10.1371/journal.pbio.0020126
    • (2004) PLoS Biol , vol.2
    • Kouprina, N.1    Pavlicek, A.2    Mochida, G.H.3    Solomon, G.4    Gersch, W.5
  • 33
    • 0347992009 scopus 로고    scopus 로고
    • Evolution of the human ASPM gene, a major determinant of brain size
    • Zhang J (2003) Evolution of the human ASPM gene, a major determinant of brain size. Genetics 165: 2063-2070.
    • (2003) Genetics , vol.165 , pp. 2063-2070
    • Zhang, J.1
  • 34
    • 0036157464 scopus 로고    scopus 로고
    • Complex signatures of natural selection at the Duffy blood group locus
    • Hamblin MT, Thompson EE, Di Rienzo A (2002) Complex signatures of natural selection at the Duffy blood group locus. Am J Hum Genet 70: 369-383.
    • (2002) Am J Hum Genet , vol.70 , pp. 369-383
    • Hamblin, M.T.1    Thompson, E.E.2    Di Rienzo, A.3
  • 36
    • 0035978759 scopus 로고    scopus 로고
    • Natural selection and resistance to HIV
    • Schliekelman P, Garner C, Slatkin M (2001) Natural selection and resistance to HIV. Nature 411: 545-546.
    • (2001) Nature , vol.411 , pp. 545-546
    • Schliekelman, P.1    Garner, C.2    Slatkin, M.3
  • 37
    • 18444412585 scopus 로고    scopus 로고
    • A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity
    • Osier MV, Pakstis AJ, Soodyall H, Comas D, Goldman D, et al. (2002) A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity. Am J Hum Genet 71: 84-99.
    • (2002) Am J Hum Genet , vol.71 , pp. 84-99
    • Osier, M.V.1    Pakstis, A.J.2    Soodyall, H.3    Comas, D.4    Goldman, D.5
  • 38
    • 0141455095 scopus 로고    scopus 로고
    • A method for detecting recent selection in the human genome from allele age estimates
    • Toomajian C, Ajioka RS, Jorde LB, Kushner JP, Kreitman M (2003) A method for detecting recent selection in the human genome from allele age estimates. Genetics 165: 287-297.
    • (2003) Genetics , vol.165 , pp. 287-297
    • Toomajian, C.1    Ajioka, R.S.2    Jorde, L.B.3    Kushner, J.P.4    Kreitman, M.5
  • 39
    • 0037158715 scopus 로고    scopus 로고
    • Molecular evolution of FOXP2, a gene involved in speech and language
    • Enard W, Przeworski M, Fisher SE, Lai CS, Wiebe V, et al. (2002) Molecular evolution of FOXP2, a gene involved in speech and language. Nature 418: 869-872.
    • (2002) Nature , vol.418 , pp. 869-872
    • Enard, W.1    Przeworski, M.2    Fisher, S.E.3    Lai, C.S.4    Wiebe, V.5
  • 40
    • 1842539589 scopus 로고    scopus 로고
    • Natural selection and molecular evolution in PTC, a bitter-taste receptor gene
    • Wooding S, Kim UK, Bamshad MJ, Larsen J, Jorde LB, et al. (2004) Natural selection and molecular evolution in PTC, a bitter-taste receptor gene. Am J Hum Genet 74: 637-646.
    • (2004) Am J Hum Genet , vol.74 , pp. 637-646
    • Wooding, S.1    Kim, U.K.2    Bamshad, M.J.3    Larsen, J.4    Jorde, L.B.5
  • 41
    • 0034976976 scopus 로고    scopus 로고
    • The use of intraallelic variability for testing neutrality and estimating population growth rate
    • Slatkin M, Bertorelle G (2001) The use of intraallelic variability for testing neutrality and estimating population growth rate. Genetics 158: 865-874.
    • (2001) Genetics , vol.158 , pp. 865-874
    • Slatkin, M.1    Bertorelle, G.2
  • 42
    • 2942737273 scopus 로고    scopus 로고
    • Molecular evolution of microcephalin, a gene determining human brain size
    • Wang YQ, Su B (2004) Molecular evolution of microcephalin, a gene determining human brain size. Hum Mol Genet 13: 1131-1137.
    • (2004) Hum Mol Genet , vol.13 , pp. 1131-1137
    • Wang, Y.Q.1    Su, B.2
  • 43
    • 2942744749 scopus 로고    scopus 로고
    • Reconstructing the evolutionary history of microcephalin, a gene controlling human brain size
    • Evans PD, Anderson JR, Vallender EJ, Choi SS, Lahn BT (2004) Reconstructing the evolutionary history of microcephalin, a gene controlling human brain size. Hum Mol Genet 13: 1139-1145.
    • (2004) Hum Mol Genet , vol.13 , pp. 1139-1145
    • Evans, P.D.1    Anderson, J.R.2    Vallender, E.J.3    Choi, S.S.4    Lahn, B.T.5
  • 44
    • 10344221021 scopus 로고    scopus 로고
    • Disentangling the effects of demography and selection in human history
    • Stajich JE, Hahn MW (2005) Disentangling the effects of demography and selection in human history. Mol Biol Evol 22: 63-73.
    • (2005) Mol Biol Evol , vol.22 , pp. 63-73
    • Stajich, J.E.1    Hahn, M.W.2
  • 45
    • 2342531738 scopus 로고    scopus 로고
    • The genetic architecture of selection at the human dopamine receptor D4 (DRD4) gene locus
    • Wang E, Ding YC, Flodman P, Kidd JR, Kidd KK, et al. (2004) The genetic architecture of selection at the human dopamine receptor D4 (DRD4) gene locus. Am J Hum Genet 74: 931-944.
    • (2004) Am J Hum Genet , vol.74 , pp. 931-944
    • Wang, E.1    Ding, Y.C.2    Flodman, P.3    Kidd, J.R.4    Kidd, K.K.5
  • 46
  • 48
    • 12144289055 scopus 로고    scopus 로고
    • The evolution and population genetics of the ALDH2 locus: Random genetic drift, selection, and low levels of recombination
    • Oota H, Pakstis AJ, Bonne-Tamir B, Goldman D, Grigorenko E, et al. (2004) The evolution and population genetics of the ALDH2 locus: Random genetic drift, selection, and low levels of recombination. Ann Hum Genet 68: 93-109.
    • (2004) Ann Hum Genet , vol.68 , pp. 93-109
    • Oota, H.1    Pakstis, A.J.2    Bonne-Tamir, B.3    Goldman, D.4    Grigorenko, E.5
  • 50
    • 0034425607 scopus 로고    scopus 로고
    • Adaptive evolution of the tumour suppressor BRCA1 in humans and chimpanzees. Australian Breast Cancer Family Study
    • Huttley GA, Easteal S, Southey MC, Tesoriero A, Giles GG, et al. (2000) Adaptive evolution of the tumour suppressor BRCA1 in humans and chimpanzees. Australian Breast Cancer Family Study. Nat Genet 25: 410-413.
    • (2000) Nat Genet , vol.25 , pp. 410-413
    • Huttley, G.A.1    Easteal, S.2    Southey, M.C.3    Tesoriero, A.4    Giles, G.G.5
  • 51
    • 25444440354 scopus 로고    scopus 로고
    • The span of linkage disequilibrium caused by selection on G6PD in humans
    • E-pub ahead of print
    • Saunders MA, Slatkin M, Garner C, Hammer MF, Nachman MW (2005) The span of linkage disequilibrium caused by selection on G6PD in humans. Genetics. E-pub ahead of print.
    • (2005) Genetics
    • Saunders, M.A.1    Slatkin, M.2    Garner, C.3    Hammer, M.F.4    Nachman, M.W.5


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