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Volumn 202, Issue 2, 2016, Pages 733-750

Testing for ancient selection using cross-population allele frequency differentiation

Author keywords

Composite likelihood; Denisova; Neanderthal; Population differentiation; Positive selection

Indexed keywords

ANCESTRY GROUP; ARTICLE; CONTROLLED STUDY; CROSS POPULATION COMPOSITE LIKELIHOOD RATIO; EAST ASIAN; EUROPEAN; GENE FREQUENCY; GENETIC SELECTION; GENETIC VARIABILITY; HISTORY; HOMO NEANDERTHALENSIS; HUMAN; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL MODEL; YORUBA (PEOPLE); ALGORITHM; ALLELE; ANIMAL; ASIAN CONTINENTAL ANCESTRY GROUP; BIOLOGICAL MODEL; CAUCASIAN; COMPUTER SIMULATION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; GENOMICS; MOLECULAR EVOLUTION; POPULATION GENETICS; PROCEDURES; RECEIVER OPERATING CHARACTERISTIC;

EID: 84973624508     PISSN: 00166731     EISSN: 19432631     Source Type: Journal    
DOI: 10.1534/genetics.115.178095     Document Type: Article
Times cited : (70)

References (97)
  • 1
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1,092 human genomes
    • Abecasis, G. R., A. Auton, L. D. Brooks, M. A. DePristo, R. M. Durbin et al., 2012 An integrated map of genetic variation from 1,092 human genomes. Nature 491(7422): 56–65.
    • (2012) Nature , vol.491 , Issue.7422 , pp. 56-65
    • Abecasis, G.R.1    Auton, A.2    Brooks, L.D.3    Depristo, M.A.4    Durbin, R.M.5
  • 2
    • 0036911353 scopus 로고    scopus 로고
    • Interrogating a high-density SNP map for signatures of natural selection
    • Akey, J. M., G. Zhang, K. Zhang, L. Jin, and M. D. Shriver, 2002 Interrogating a high-density SNP map for signatures of natural selection. Genome Res. 12(12): 1805–1814.
    • (2002) Genome Res , vol.12 , Issue.12 , pp. 1805-1814
    • Akey, J.M.1    Zhang, G.2    Zhang, K.3    Jin, L.4    Shriver, M.D.5
  • 4
    • 60549085065 scopus 로고    scopus 로고
    • Interactions between herc2, oca2 and mc1r may influence human pigmentation phenotype
    • Branicki, W., U. Brudnik, and A. Wojas-Pelc, 2009 Interactions between herc2, oca2 and mc1r may influence human pigmentation phenotype. Ann. Hum. Genet. 73(2): 160–170.
    • (2009) Ann. Hum. Genet , vol.73 , Issue.2 , pp. 160-170
    • Branicki, W.1    Brudnik, U.2    Wojas-Pelc, A.3
  • 5
    • 80054976678 scopus 로고    scopus 로고
    • The evolution of gene expression levels in mammalian organs
    • Brawand, D., M. Soumillon, A. Necsulea, P. Julien, G. Csárdi et al., 2011 The evolution of gene expression levels in mammalian organs. Nature 478(7369): 343–348.
    • (2011) Nature , vol.478 , Issue.7369 , pp. 343-348
    • Brawand, D.1    Soumillon, M.2    Necsulea, A.3    Julien, P.4    Csárdi, G.5
  • 7
    • 77649260327 scopus 로고    scopus 로고
    • Population differentiation as a test for selective sweeps
    • Chen, H., N. Patterson, and D. Reich, 2010 Population differentiation as a test for selective sweeps. Genome Res. 20(3): 393– 402.
    • (2010) Genome Res , vol.20 , Issue.3
    • Chen, H.1    Patterson, N.2    Reich, D.3
  • 8
    • 77951651879 scopus 로고    scopus 로고
    • Single-nucleotide evolutionary constraint scores highlight disease-causing mutations
    • Cooper, G. M., D. L. Goode, S. B. Ng, A. Sidow, M. J. Bamshad et al., 2010 Single-nucleotide evolutionary constraint scores highlight disease-causing mutations. Nat. Methods 7(4): 250–251.
    • (2010) Nat. Methods , vol.7 , Issue.4 , pp. 250-251
    • Cooper, G.M.1    Goode, D.L.2    Ng, S.B.3    Sidow, A.4    Bamshad, M.J.5
  • 9
    • 84555206233 scopus 로고    scopus 로고
    • On characterizing adaptive events unique to modern humans
    • Crisci, J. L., A. Wong, J. M. Good, and J. D. Jensen, 2011 On characterizing adaptive events unique to modern humans. Genome Biol. Evol. 3: 791–798.
    • (2011) Genome Biol. Evol , vol.3 , pp. 791-798
    • Crisci, J.L.1    Wong, A.2    Good, J.M.3    Jensen, J.D.4
  • 10
    • 2342423628 scopus 로고    scopus 로고
    • Megakaryoblastic leukemia factor-1 transduces cytoskeletal signals and induces smooth muscle cell differentiation from undifferentiated embryonic stem cells
    • Du, K. L., M. Chen, J. Li, J. J. Lepore, P. Mericko et al., 2004 Megakaryoblastic leukemia factor-1 transduces cytoskeletal signals and induces smooth muscle cell differentiation from undifferentiated embryonic stem cells. J. Biol. Chem. 279(17): 17578–17586.
    • (2004) J. Biol. Chem , vol.279 , Issue.17 , pp. 17578-17586
    • Du, K.L.1    Chen, M.2    Li, J.3    Lepore, J.J.4    Mericko, P.5
  • 11
    • 84865790047 scopus 로고    scopus 로고
    • An integrated encyclopedia of DNA elements in the human genome
    • Dunham, I., A. Kundaje, S. F. Aldred, P. J. Collins, C. Davis et al., 2012 An integrated encyclopedia of DNA elements in the human genome. Nature 489(7414): 57–74.
    • (2012) Nature , vol.489 , Issue.7414 , pp. 57-74
    • Dunham, I.1    Kundaje, A.2    Aldred, S.F.3    Collins, P.J.4    Davis, C.5
  • 12
    • 4143062780 scopus 로고    scopus 로고
    • Approximating selective sweeps
    • Durrett, R., and J. Schweinsberg, 2004 Approximating selective sweeps. Theor. Popul. Biol. 66(2): 129–138.
    • (2004) Theor. Popul. Biol , vol.66 , Issue.2 , pp. 129-138
    • Durrett, R.1    Schweinsberg, J.2
  • 13
    • 12144288685 scopus 로고    scopus 로고
    • Variations in gabra2, encoding the a2 subunit of the gaba a receptor, are associated with alcohol dependence and with brain oscillations
    • Edenberg, H. J., D. M. Dick, X. Xuei, H. Tian, L. Almasy et al., 2004 Variations in gabra2, encoding the a2 subunit of the gaba a receptor, are associated with alcohol dependence and with brain oscillations. Am. J. Hum. Genet. 74(4): 705–714.
    • (2004) Am. J. Hum. Genet , vol.74 , Issue.4 , pp. 705-714
    • Edenberg, H.J.1    Dick, D.M.2    Xuei, X.3    Tian, H.4    Almasy, L.5
  • 14
    • 0041321497 scopus 로고    scopus 로고
    • Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: A report on three patients
    • Edery, P., S. Chabrier, I. Ceballos-Picot, S. Marie, M.-F. Vincent et al., 2003 Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. Am. J. Med. Genet. A. 120(2): 185–190.
    • (2003) Am. J. Med. Genet. A , vol.120 , Issue.2 , pp. 185-190
    • Edery, P.1    Chabrier, S.2    Ceballos-Picot, I.3    Marie, S.4    Vincent, M.-F.5
  • 15
    • 0347362524 scopus 로고    scopus 로고
    • Capillary malformation–arteriovenous malformation, a new clinical and genetic disorder caused by rasa1 mutations
    • Eerola, I., L. M. Boon, J. B. Mulliken, P. E. Burrows, A. Dompmartin et al., 2003 Capillary malformation–arteriovenous malformation, a new clinical and genetic disorder caused by rasa1 mutations. Am. J. Hum. Genet. 73(6): 1240–1249.
    • (2003) Am. J. Hum. Genet , vol.73 , Issue.6 , pp. 1240-1249
    • Eerola, I.1    Boon, L.M.2    Mulliken, J.B.3    Burrows, P.E.4    Dompmartin, A.5
  • 16
    • 39549097952 scopus 로고    scopus 로고
    • Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the herc2 gene inhibiting oca2 expression
    • Eiberg, H., J. Troelsen, M. Nielsen, A. Mikkelsen, J. Mengel-From et al., 2008 Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the herc2 gene inhibiting oca2 expression. Hum. Genet. 123(2): 177–187.
    • (2008) Hum. Genet , vol.123 , Issue.2 , pp. 177-187
    • Eiberg, H.1    Troelsen, J.2    Nielsen, M.3    Mikkelsen, A.4    Mengel-From, J.5
  • 17
    • 0003751736 scopus 로고    scopus 로고
    • Springer Science & Business Media, New York, NY
    • Ewens, W. J., 2012 Mathematical Population Genetics 1: Theoretical Introduction, Vol. 27. Springer Science & Business Media, New York, NY.
    • (2012) Mathematical Population Genetics , pp. 27
    • Ewens, W.J.1
  • 18
    • 84876444266 scopus 로고    scopus 로고
    • Detecting signatures of selection through haplotype differentiation among hierarchically structured populations
    • Fariello, M. I., S. Boitard, H. Naya, M. SanCristobal, and B. Servin, 2013 Detecting signatures of selection through haplotype differentiation among hierarchically structured populations. Genetics 193: 929–941.
    • (2013) Genetics , vol.193 , pp. 929-941
    • Fariello, M.I.1    Boitard, S.2    Naya, H.3    Sancristobal, M.4    Servin, B.5
  • 19
    • 0033911640 scopus 로고    scopus 로고
    • Hitchhiking under positive Darwinian selection
    • Fay, J. C., and C.-I. Wu, 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
  • 20
    • 0001708655 scopus 로고
    • Evolutionary trees from gene frequencies and quantitative characters: Finding maximum likelihood estimates
    • Felsenstein, J., 1981 Evolutionary trees from gene frequencies and quantitative characters: finding maximum likelihood estimates. Evolution 35: 1229–1242.
    • (1981) Evolution , vol.35 , pp. 1229-1242
    • Felsenstein, J.1
  • 21
    • 0027454104 scopus 로고
    • Nonsense mutations in the c–terminal sh2 region of the gtpase activating protein (Gap) gene in human tumours
    • Friedman, E., P. V. Gejman, G. A. Martin, and F. McCormick, 1993 Nonsense mutations in the c–terminal sh2 region of the gtpase activating protein (gap) gene in human tumours. Nat. Genet. 5(3): 242–247.
    • (1993) Nat. Genet , vol.5 , Issue.3 , pp. 242-247
    • Friedman, E.1    Gejman, P.V.2    Martin, G.A.3    McCormick, F.4
  • 22
    • 84914688940 scopus 로고    scopus 로고
    • Genome sequence of a 45,000-year-old modern human from western Siberia
    • Fu, Q., H. Li, P. Moorjani, F. Jay, S. M. Slepchenko et al., 2014 Genome sequence of a 45,000-year-old modern human from western Siberia. Nature 514(7523): 445–449.
    • (2014) Nature , vol.514 , Issue.7523 , pp. 445-449
    • Fu, Q.1    Li, H.2    Moorjani, P.3    Jay, F.4    Slepchenko, S.M.5
  • 23
    • 40549143078 scopus 로고    scopus 로고
    • A scan for genetic determinants of human hair morphology: Edar is associated with Asian hair thickness
    • Fujimoto, A., R. Kimura, J. Ohashi, K. Omi, R. Yuliwulandari et al., 2008 A scan for genetic determinants of human hair morphology: Edar is associated with Asian hair thickness. Hum. Mol. Genet. 17(6): 835–843.
    • (2008) Hum. Mol. Genet , vol.17 , Issue.6 , pp. 835-843
    • Fujimoto, A.1    Kimura, R.2    Ohashi, J.3    Omi, K.4    Yuliwulandari, R.5
  • 24
    • 0032952586 scopus 로고    scopus 로고
    • The e6 oncoproteins of high-risk papillomaviruses bind to a novel putative gap protein, e6tp1, and target it for degradation
    • Gao, Q., S. Srinivasan, S. N. Boyer, D. E. Wazer, and V. Band, 1999 The e6 oncoproteins of high-risk papillomaviruses bind to a novel putative gap protein, e6tp1, and target it for degradation. Mol. Cell. Biol. 19(1): 733–744.
    • (1999) Mol. Cell. Biol , vol.19 , Issue.1 , pp. 733-744
    • Gao, Q.1    Srinivasan, S.2    Boyer, S.N.3    Wazer, D.E.4    Band, V.5
  • 26
    • 0242401835 scopus 로고    scopus 로고
    • A gene expression atlas of the central nervous system based on bacterial artificial chromosomes
    • Gong, S., C. Zheng, M. L. Doughty, K. Losos, N. Didkovsky et al., 2003 A gene expression atlas of the central nervous system based on bacterial artificial chromosomes. Nature 425(6961): 917–925.
    • (2003) Nature , vol.425 , Issue.6961 , pp. 917-925
    • Gong, S.1    Zheng, C.2    Doughty, M.L.3    Losos, K.4    Didkovsky, N.5
  • 27
    • 77952136530 scopus 로고    scopus 로고
    • A draft sequence of the Neandertal genome
    • Green, R. E., J. Krause, A. W. Briggs, T. Maricic, U. Stenzel et al., 2010 A draft sequence of the Neandertal genome. Science 328 (5979): 710–722.
    • (2010) Science , vol.328 , Issue.5979 , pp. 710-722
    • Green, R.E.1    Krause, J.2    Briggs, A.W.3    Maricic, T.4    Stenzel, U.5
  • 28
    • 76749155514 scopus 로고    scopus 로고
    • A composite of multiple signals distinguishes causal variants in regions of positive selection
    • Grossman, S. R., I. Shylakhter, E. K. Karlsson, E. H. Byrne, S. Morales et al., 2010 A composite of multiple signals distinguishes causal variants in regions of positive selection. Science 327(5967): 883–886.
    • (2010) Science , vol.327 , Issue.5967 , pp. 883-886
    • Grossman, S.R.1    Shylakhter, I.2    Karlsson, E.K.3    Byrne, E.H.4    Morales, S.5
  • 29
    • 39749159112 scopus 로고    scopus 로고
    • Common sequence variants on 2p15 and xp11. 22 confer susceptibility to prostate cancer
    • Gudmundsson, J., P. Sulem, T. Rafnar, J. T. Bergthorsson, and A. Manolescu et al., 2008 Common sequence variants on 2p15 and xp11. 22 confer susceptibility to prostate cancer. Nat. Genet. 40(3): 281–283.
    • (2008) Nat. Genet. , vol.40 , Issue.3 , pp. 281-283
    • Gudmundsson, J.1    Sulem, P.2    Rafnar, T.3    Bergthorsson, J.T.4    Manolescu, A.5
  • 30
    • 4544290119 scopus 로고    scopus 로고
    • Role of ehd1 and ehbp1 in perinuclear sorting and in-sulin-regulated glut4 recycling in 3t3-l1 adipocytes
    • Guilherme, A., N. A. Soriano, P. S. Furcinitti, and M. P. Czech, 2004 Role of ehd1 and ehbp1 in perinuclear sorting and in-sulin-regulated glut4 recycling in 3t3-l1 adipocytes. J. Biol. Chem. 279(38): 40062–40075.
    • (2004) J. Biol. Chem , vol.279 , Issue.38 , pp. 40062-40075
    • Guilherme, A.1    Soriano, N.A.2    Furcinitti, P.S.3    Czech, M.P.4
  • 31
    • 73449149044 scopus 로고    scopus 로고
    • Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data
    • Gutenkunst, R. N., R. D. Hernandez, S. H. Williamson, and C. D. Bustamante, 2009 Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data. PLoS Genet. 5(10): e1000695.
    • (2009) Plos Genet. , vol.5 , Issue.10
    • Gutenkunst, R.N.1    Hernandez, R.D.2    Williamson, S.H.3    Bustamante, C.D.4
  • 32
    • 0025321144 scopus 로고
    • Murine and human b locus pigmentation genes encode a glycoprotein (Gp75) with catalase activity
    • Halaban, R., and G. Moellmann, 1990 Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity. Proc. Natl. Acad. Sci. USA 87(12): 4809–4813.
    • (1990) Proc. Natl. Acad. Sci , vol.87 , Issue.12 , pp. 4809-4813
    • Halaban, R.1    Moellmann, G.2
  • 33
    • 44849091227 scopus 로고    scopus 로고
    • A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation
    • Han, J., P. Kraft, H. Nan, Q. Guo, and C. Chen et al., 2008 A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet. 4(5): e1000074.
    • (2008) Plos Genet. , vol.4 , Issue.5
    • Han, J.1    Kraft, P.2    Nan, H.3    Guo, Q.4    Chen, C.5
  • 34
    • 84873031321 scopus 로고    scopus 로고
    • Common variation at 2q22. 3 (zeb2) influences the risk of renal cancer
    • Henrion, M., M. Frampton, G. Scelo, M. Purdue, Y. Ye et al., 2013 Common variation at 2q22. 3 (zeb2) influences the risk of renal cancer. Hum. Mol. Genet. 22(4): 825–831.
    • (2013) Hum. Mol. Genet. , vol.22 , Issue.4 , pp. 825-831
    • Henrion, M.1    Frampton, M.2    Scelo, G.3    Purdue, M.4    Ye, Y.5
  • 35
    • 79951829399 scopus 로고    scopus 로고
    • Classic selective sweeps were rare in recent human evolution
    • Hernandez, R. D., J. L. Kelley, E. Elyashiv, S. C. Melton, A. Auton et al., 2011 Classic selective sweeps were rare in recent human evolution. Science 331(6019): 920–924.
    • (2011) Science , vol.331 , Issue.6019 , pp. 920-924
    • Hernandez, R.D.1    Kelley, J.L.2    Elyashiv, E.3    Melton, S.C.4    Auton, A.5
  • 36
    • 42049117619 scopus 로고    scopus 로고
    • Rasa1 mutations may cause hereditary capillary malformations without arteriovenous malformations
    • Hershkovitz, D., D. Bercovich, E. Sprecher, and M. Lapidot, 2008 Rasa1 mutations may cause hereditary capillary malformations without arteriovenous malformations. Br. J. Dermatol. 158(5): 1035–1040.
    • (2008) Br. J. Dermatol , vol.158 , Issue.5 , pp. 1035-1040
    • Hershkovitz, D.1    Bercovich, D.2    Sprecher, E.3    Lapidot, M.4
  • 37
    • 80051679387 scopus 로고    scopus 로고
    • The landscape of recombination in African Americans
    • Hinch, A. G., A. Tandon, N. Patterson, Y. Song, N. Rohland et al., 2011 The landscape of recombination in African Americans. Nature 476(7359): 170–175.
    • (2011) Nature , vol.476 , Issue.7359 , pp. 170-175
    • Hinch, A.G.1    Tandon, A.2    Patterson, N.3    Song, Y.4    Rohland, N.5
  • 38
    • 41349103493 scopus 로고    scopus 로고
    • Newly identified genetic risk variants for celiac disease related to the immune response
    • Hunt, K. A., A. Zhernakova, G. Turner, G. A. R. Heap, L. Franke et al., 2008 Newly identified genetic risk variants for celiac disease related to the immune response. Nat. Genet. 40(4): 395–402.
    • (2008) Nat. Genet , vol.40 , Issue.4 , pp. 395-402
    • Hunt, K.A.1    Zhernakova, A.2    Turner, G.3    Heap, G.A.R.4    Franke, L.5
  • 39
    • 0033982936 scopus 로고    scopus 로고
    • Kegg: Kyoto encyclopedia of genes and genomes
    • Kanehisa, M., and S. Goto, 2000 Kegg: Kyoto encyclopedia of genes and genomes. Nucleic Acids Res. 28(1): 27–30.
    • (2000) Nucleic Acids Res , vol.28 , Issue.1 , pp. 27-30
    • Kanehisa, M.1    Goto, S.2
  • 40
    • 84860428499 scopus 로고    scopus 로고
    • Melanesian blond hair is caused by an amino acid change in tyrp1
    • Kenny, E. E., N. J. Timpson, M. Sikora, M.-C. Yee, A. Moreno- Estrada et al., 2012 Melanesian blond hair is caused by an amino acid change in tyrp1. Science 336(6081): 554.
    • (2012) Science , vol.336 , Issue.6081 , pp. 554
    • Kenny, E.E.1    Timpson, N.J.2    Sikora, M.3    Yee, M.-C.4    Moreno-Estrada, A.5
  • 41
    • 70350474766 scopus 로고    scopus 로고
    • A common variation in edar is a genetic determinant of shovel-shaped incisors
    • Kimura, R., T. Yamaguchi, M. Takeda, O. Kondo, T. Toma et al., 2009 A common variation in edar is a genetic determinant of shovel-shaped incisors. Am. J. Hum. Genet. 85(4): 528–535.
    • (2009) Am. J. Hum. Genet , vol.85 , Issue.4 , pp. 528-535
    • Kimura, R.1    Yamaguchi, T.2    Takeda, M.3    Kondo, O.4    Toma, T.5
  • 42
    • 84895858942 scopus 로고    scopus 로고
    • A general framework for estimating the relative patho-genicity of human genetic variants. Nat
    • Kircher, M., D. M. Witten, P. Jain, B. J. O’Roak, G. M. Cooper et al., 2014 A general framework for estimating the relative patho-genicity of human genetic variants. Nat. Genet. 46(3): 310–315.
    • (2014) Genet , vol.46 , Issue.3 , pp. 310-315
    • Kircher, M.1    Witten, D.M.2    Jain, P.3    O’Roak, B.J.4    Cooper, G.M.5
  • 43
    • 0034640869 scopus 로고    scopus 로고
    • Human adenylosuccinate lyase (Adsl), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for adsl deficiency in six patients
    • Kmoch, S., H. Hartmannová, B. Stibùrková, J. Krijt, M. Zikánová et al., 2000 Human adenylosuccinate lyase (adsl), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for adsl deficiency in six patients. Hum. Mol. Genet. 9(10): 1501–1513.
    • (2000) Hum. Mol. Genet , vol.9 , Issue.10 , pp. 1501-1513
    • Kmoch, S.1    Hartmannová, H.2    Stibùrková, B.3    Krijt, J.4    Zikánová, M.5
  • 44
    • 38349169245 scopus 로고    scopus 로고
    • Reversal of pathological pain through specific spinal ga-baa receptor subtypes
    • Knabl, J., R. Witschi, K. Hösl, H. Reinold, U. B. Zeilhofer et al., 2008 Reversal of pathological pain through specific spinal ga-baa receptor subtypes. Nature 451(7176): 330–334.
    • (2008) Nature , vol.451 , Issue.7176 , pp. 330-334
    • Knabl, J.1    Witschi, R.2    Hösl, K.3    Reinold, H.4    Zeilhofer, U.B.5
  • 45
    • 84865123842 scopus 로고    scopus 로고
    • Gowinda: Unbiased analysis of gene set enrichment for genome-wide association studies
    • Kofler, R., and C. Schlötterer, 2012 Gowinda: unbiased analysis of gene set enrichment for genome-wide association studies. Bioinformatics 28(15): 2084–2085.
    • (2012) Bioinformatics , vol.28 , Issue.15 , pp. 2084-2085
    • Kofler, R.1    Schlötterer, C.2
  • 46
    • 84907803675 scopus 로고    scopus 로고
    • Ancient human genomes suggest three ancestral populations for present-day Europeans
    • Lazaridis, I., N. Patterson, A. Mittnik, G. Renaud, S. Mallick et al., 2014 Ancient human genomes suggest three ancestral populations for present-day Europeans. Nature 513(7518): 409–413.
    • (2014) Nature , vol.513 , Issue.7518 , pp. 409-413
    • Lazaridis, I.1    Patterson, N.2    Mittnik, A.3    Renaud, G.4    Mallick, S.5
  • 47
    • 0015879546 scopus 로고
    • Distribution of gene frequency as a test of the theory of the selective neutrality of polymorphisms
    • Lewontin, R. C., and J. Krakauer, 1973 Distribution of gene frequency as a test of the theory of the selective neutrality of polymorphisms. Genetics 74: 175–195.
    • (1973) Genetics , vol.74 , pp. 175-195
    • Lewontin, R.C.1    Krakauer, J.2
  • 48
    • 79960914105 scopus 로고    scopus 로고
    • Inference of human population history from individual whole-genome sequences
    • Li, H., and R. Durbin, 2011 Inference of human population history from individual whole-genome sequences. Nature 475(7357): 493–496.
    • (2011) Nature , vol.475 , Issue.7357 , pp. 493-496
    • Li, H.1    Durbin, R.2
  • 49
    • 84861023442 scopus 로고    scopus 로고
    • GWASdb: A database for human genetic variants identified by genome-wide association studies
    • Li, M. J., P. Wang, X. Liu, E. L. Lim, Z. Wang et al., 2011 GWASdb: a database for human genetic variants identified by genome-wide association studies. Nucleic Acids Res. 40: D1047–D1054.
    • (2011) Nucleic Acids Res , vol.40 , pp. D1047-D1054
    • Li, M.J.1    Wang, P.2    Liu, X.3    Lim, E.L.4    Wang, Z.5
  • 50
    • 0001915899 scopus 로고
    • Composite likelihood methods. Contemp
    • Lindsay, B. G., 1988 Composite likelihood methods. Contemp. Math. 80(1): 221–239.
    • (1988) Math , vol.80 , Issue.1 , pp. 221-239
    • Lindsay, B.G.1
  • 51
    • 84892372058 scopus 로고    scopus 로고
    • Efficient moment-based inference of admixture parameters and sources of gene flow
    • Lipson, M., P.-R. Loh, A. Levin, D. Reich, N. Patterson et al., 2013 Efficient moment-based inference of admixture parameters and sources of gene flow. Mol. Biol. Evol. 30(8): 1788– 1802.
    • (2013) Mol. Biol. Evol. , vol.30 , Issue.8
    • Lipson, M.1    Loh, P.-R.2    Levin, A.3    Reich, D.4    Patterson, N.5
  • 53
    • 0032993258 scopus 로고    scopus 로고
    • Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full adsl coding sequence
    • Marie, S., H. Cuppens, M. Heuterspreute, M. Jaspers, E. Z. Tola et al., 1999 Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full adsl coding sequence. Hum. Mutat. 13(3): 197–202.
    • (1999) Hum. Mutat , vol.13 , Issue.3 , pp. 197-202
    • Marie, S.1    Cuppens, H.2    Heuterspreute, M.3    Jaspers, M.4    Tola, E.Z.5
  • 55
    • 28444495985 scopus 로고    scopus 로고
    • Identification of novel argonaute-associated proteins
    • Meister, G., M. Landthaler, L. Peters, P. Y. Chen, H. Urlaub et al., 2005 Identification of novel argonaute-associated proteins. Curr. Biol. 15(23): 2149–2155.
    • (2005) Curr. Biol , vol.15 , Issue.23 , pp. 2149-2155
    • Meister, G.1    Landthaler, M.2    Peters, L.3    Chen, P.Y.4    Urlaub, H.5
  • 57
    • 14344280044 scopus 로고    scopus 로고
    • Involvement of a human gene related to the Drosophila spen gene in the recurrent t (1; 22) translocation of acute megakaryocytic leukemia
    • Mercher, T., M. Busson-Le Coniat, R. Monni, M. Mauchauffé, F. N. Khac et al., 2001 Involvement of a human gene related to the Drosophila spen gene in the recurrent t (1; 22) translocation of acute megakaryocytic leukemia. Proc. Natl. Acad. Sci. USA 98 (10): 5776–5779.
    • (2001) Proc. Natl. Acad. Sci , vol.98 , Issue.10 , pp. 5776-5779
    • Mercher, T.1    Busson-Le Coniat, M.2    Monni, R.3    Mauchauffé, M.4    Khac, F.N.5
  • 58
    • 84881041428 scopus 로고    scopus 로고
    • Slim: Simulating evolution with selection and linkage
    • Messer, P. W., 2013 Slim: simulating evolution with selection and linkage. Genetics 194: 1037–1039.
    • (2013) Genetics , vol.194 , pp. 1037-1039
    • Messer, P.W.1
  • 59
    • 84867331947 scopus 로고    scopus 로고
    • A high-coverage genome sequence from an archaic Denisovan individual
    • Meyer, M., M. Kircher, M.-T. Gansauge, H. Li, and F. Racimo et al., 2012 A high-coverage genome sequence from an archaic Denisovan individual. Science 338(6104): 222–226.
    • (2012) Science , vol.338 , Issue.6104 , pp. 222-226
    • Meyer, M.1    Kircher, M.2    Gansauge, M.-T.3    Li, H.4    Racimo, F.5
  • 61
    • 45849145445 scopus 로고    scopus 로고
    • Identifying selected regions from heterozygosity and divergence using a light-coverage genomic dataset from two human populations
    • Oleksyk, T. K., K. Zhao, M. Francisco, D. A. Gilbert, S. J. O’Brien et al., 2008 Identifying selected regions from heterozygosity and divergence using a light-coverage genomic dataset from two human populations. PLoS ONE 3(3): e1712.
    • (2008) Plos ONE , vol.3 , Issue.3
    • Oleksyk, T.K.1    Zhao, K.2    Francisco, M.3    Gilbert, D.A.4    O’Brien, S.J.5
  • 62
    • 78650336422 scopus 로고    scopus 로고
    • Adjusting composite likelihood ratio statistics
    • Pace, L., A. Salvan, and N. Sartori, 2011 Adjusting composite likelihood ratio statistics. Stat. Sin. 21(1): 129.
    • (2011) Stat. Sin , vol.21 , Issue.1 , pp. 129
    • Pace, L.1    Salvan, A.2    Sartori, N.3
  • 63
    • 80052840370 scopus 로고    scopus 로고
    • Genome-wide population-based association study of extremely overweight young adults–the Goya study
    • Paternoster, L., D. M. Evans, E. A. Nohr, C. Holst, V. Gaborieau et al., 2011 Genome-wide population-based association study of extremely overweight young adults–the Goya study. PLoS ONE 6(9): e24303.
    • (2011) Plos ONE , vol.6 , Issue.9
    • Paternoster, L.1    Evans, D.M.2    Nohr, E.A.3    Holst, C.4    Gaborieau, V.5
  • 65
    • 33751316959 scopus 로고    scopus 로고
    • In vivo enhancer analysis of human conserved non-coding sequences
    • Pennacchio, L. A., N. Ahituv, A. M. Moses, S. Prabhakar, M. A. Nobrega et al., 2006 In vivo enhancer analysis of human conserved non-coding sequences. Nature 444(7118): 499–502.
    • (2006) Nature , vol.444 , Issue.7118 , pp. 499-502
    • Pennacchio, L.A.1    Ahituv, N.2    Moses, A.M.3    Prabhakar, S.4    Nobrega, M.A.5
  • 66
    • 78649743723 scopus 로고    scopus 로고
    • Genome-wide association study of suicide attempts in mood disorder patients
    • Perlis, R. H., J. Huang, S. Purcell, M. Fava, A. J. Rush et al., 2010 Genome-wide association study of suicide attempts in mood disorder patients. Genome 167(12): 1499–1507.
    • (2010) Genome , vol.167 , Issue.12 , pp. 1499-1507
    • Perlis, R.H.1    Huang, J.2    Purcell, S.3    Fava, M.4    Rush, A.J.5
  • 67
    • 84869026948 scopus 로고    scopus 로고
    • Inference of population splits and mixtures from genome-wide allele frequency data
    • Pickrell, J. K., and J. K. Pritchard, 2012 Inference of population splits and mixtures from genome-wide allele frequency data. PLoS Genet. 8(11): e1002967.
    • (2012) Plos Genet , vol.8 , Issue.11
    • Pickrell, J.K.1    Pritchard, J.K.2
  • 68
    • 66049157487 scopus 로고    scopus 로고
    • Signals of recent positive selection in a worldwide sample of human populations
    • Pickrell, J. K., G. Coop, J. Novembre, S. Kudaravalli, J. Z. Li et al., 2009 Signals of recent positive selection in a worldwide sample of human populations. Genome Res. 19(5): 826–837.
    • (2009) Genome Res , vol.19 , Issue.5 , pp. 826-837
    • Pickrell, J.K.1    Coop, G.2    Novembre, J.3    Kudaravalli, S.4    Li, J.Z.5
  • 69
    • 0035864895 scopus 로고    scopus 로고
    • Disruption of apc10/doc1 in three alleles of oligosyndactylism
    • Pravtcheva, D. D., and T. L. Wise, 2001 Disruption of apc10/doc1 in three alleles of oligosyndactylism. Genomics 72(1): 78–87.
    • (2001) Genomics , vol.72 , Issue.1 , pp. 78-87
    • Pravtcheva, D.D.1    Wise, T.L.2
  • 70
    • 84892365780 scopus 로고    scopus 로고
    • The complete genome sequence of a Neanderthal from the Altai mountains
    • Prüfer, K., F. Racimo, N. Patterson, F. Jay, S. Sankararaman et al., 2014 The complete genome sequence of a Neanderthal from the Altai mountains. Nature 505(7481): 43–49.
    • (2014) Nature , vol.505 , Issue.7481 , pp. 43-49
    • Prüfer, K.1    Racimo, F.2    Patterson, N.3    Jay, F.4    Sankararaman, S.5
  • 71
    • 0034284939 scopus 로고    scopus 로고
    • Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency
    • Race, V., S. Marie, M.-F. Vincent, and G. Van den Berghe, 2000 Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. Hum. Mol. Genet. 9(14): 2159–2165.
    • (2000) Hum. Mol. Genet , vol.9 , Issue.14 , pp. 2159-2165
    • Race, V.1    Marie, S.2    Vincent, M.-F.3    Van Den Berghe, G.4
  • 72
    • 84925002619 scopus 로고    scopus 로고
    • A test for ancient selective sweeps and an application to candidate sites in modern humans
    • Racimo, F., M. Kuhlwilm, and M. Slatkin, 2014 A test for ancient selective sweeps and an application to candidate sites in modern humans. Mol. Biol. Evol. 31(12): 3344–3358.
    • (2014) Mol. Biol. Evol , vol.31 , Issue.12 , pp. 3344-3358
    • Racimo, F.1    Kuhlwilm, M.2    Slatkin, M.3
  • 73
    • 84954358609 scopus 로고    scopus 로고
    • The human phenotype ontology: A tool for annotating and analyzing human hereditary disease
    • Robinson, P. N., S. Köhler, S. Bauer, D. Seelow, D. Horn et al., 2008 The human phenotype ontology: a tool for annotating and analyzing human hereditary disease. Am. J. Hum. Genet. 83(5): 610–615.
    • (2008) Am. J. Hum. Genet , vol.83 , Issue.5 , pp. 610-615
    • Robinson, P.N.1    Köhler, S.2    Bauer, S.3    Seelow, D.4    Horn, D.5
  • 75
    • 0037167852 scopus 로고    scopus 로고
    • Detecting recent positive selection in the human genome from haplotype structure
    • Sabeti, P. C., D. E. Reich, J. M. Higgins, H. Z. P. Levine, D. J. Richter et al., 2002 Detecting recent positive selection in the human genome from haplotype structure. Nature 419(6909): 832–837.
    • (2002) Nature , vol.419 , Issue.6909 , pp. 832-837
    • Sabeti, P.C.1    Reich, D.E.2    Higgins, J.M.3    Levine, H.Z.P.4    Richter, D.J.5
  • 76
    • 35349012592 scopus 로고    scopus 로고
    • Genome-wide detection and characterization of positive selection in human populations
    • Sabeti, P. C., P. Varilly, B. Fry, J. Lohmueller, and E. Hostetter et al., 2007 Genome-wide detection and characterization of positive selection in human populations. Nature 449(7164): 913–918.
    • (2007) Nature , vol.449 , Issue.7164 , pp. 913-918
    • Sabeti, P.C.1    Varilly, P.2    Fry, B.3    Lohmueller, J.4    Hostetter, E.5
  • 77
    • 77953363689 scopus 로고    scopus 로고
    • Ca 2+-dependent activator protein for secretion 2 and autistic-like phenotypes
    • Sadakata, T., and T. Furuichi, 2010 Ca 2+-dependent activator protein for secretion 2 and autistic-like phenotypes. Neurosci. Res. 67(3): 197–202.
    • (2010) Neurosci. Res , vol.67 , Issue.3 , pp. 197-202
    • Sadakata, T.1    Furuichi, T.2
  • 78
    • 0036334041 scopus 로고    scopus 로고
    • Male infertility, impaired sperm motility, and hydrocephalus in mice deficient in sperm-associated antigen 6
    • Sapiro, R., I. Kostetskii, P. Olds-Clarke, G. L. Gerton, G. L. Radice et al., 2002 Male infertility, impaired sperm motility, and hydrocephalus in mice deficient in sperm-associated antigen 6. Mol. Cell. Biol. 22(17): 6298–6305.
    • (2002) Mol. Cell. Biol , vol.22 , Issue.17 , pp. 6298-6305
    • Sapiro, R.1    Kostetskii, I.2    Olds-Clarke, P.3    Gerton, G.L.4    Radice, G.L.5
  • 79
    • 84867669367 scopus 로고    scopus 로고
    • Genomic variation in seven khoe-san groups reveals adaptation and complex African history
    • Schlebusch, C. M., P. Skoglund, P. Sjödin, L. M. Gattepaille, D. Hernandez et al., 2012 Genomic variation in seven khoe-san groups reveals adaptation and complex African history. Science 338(6105): 374–379.
    • (2012) Science , vol.338 , Issue.6105 , pp. 374-379
    • Schlebusch, C.M.1    Skoglund, P.2    Sjödin, P.3    Gattepaille, L.M.4    Hernandez, D.5
  • 81
    • 84857497457 scopus 로고    scopus 로고
    • Role of bmi1, a stem cell factor, in cancer recurrence and chemoresistance: Preclinical and clinical evidences
    • Siddique, H. R., and M. Saleem, 2012 Role of bmi1, a stem cell factor, in cancer recurrence and chemoresistance: preclinical and clinical evidences. Stem Cells 30(3): 372–378.
    • (2012) Stem Cells , vol.30 , Issue.3 , pp. 372-378
    • Siddique, H.R.1    Saleem, M.2
  • 82
    • 23744458086 scopus 로고    scopus 로고
    • Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes
    • Siepel, A., G. Bejerano, J. S. Pedersen, A. S. Hinrichs, M. Hou et al., 2005 Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res. 15(8): 1034–1050.
    • (2005) Genome Res , vol.15 , Issue.8 , pp. 1034-1050
    • Siepel, A.1    Bejerano, G.2    Pedersen, J.S.3    Hinrichs, A.S.4    Hou, M.5
  • 83
    • 0016220238 scopus 로고
    • The hitch-hiking effect of a favourable gene
    • Smith, J. M., and J. Haigh, 1974 The hitch-hiking effect of a favourable gene. Genet. Res. 23(01): 23–35.
    • (1974) Genet. Res , vol.23 , Issue.1 , pp. 23-35
    • Smith, J.M.1    Haigh, J.2
  • 84
    • 79957604338 scopus 로고    scopus 로고
    • A genome-wide association study of metabolic traits in human urine
    • Suhre, K., H. Wallaschofski, J. Raffler, N. Friedrich, R. Haring et al., 2011 A genome-wide association study of metabolic traits in human urine. Nat. Genet. 43(6): 565–569.
    • (2011) Nat. Genet , vol.43 , Issue.6 , pp. 565-569
    • Suhre, K.1    Wallaschofski, H.2    Raffler, J.3    Friedrich, N.4    Haring, R.5
  • 85
    • 34347341846 scopus 로고    scopus 로고
    • Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
    • Todd, J. A., N. M. Walker, J. D. Cooper, D. J. Smyth, K. Downes et al., 2007 Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat. Genet. 39(7): 857–864.
    • (2007) Nat. Genet , vol.39 , Issue.7 , pp. 857-864
    • Todd, J.A.1    Walker, N.M.2    Cooper, J.D.3    Smyth, D.J.4    Downes, K.5
  • 86
    • 81855199035 scopus 로고    scopus 로고
    • Comparison of the function and expression of cyp26a1 and cyp26b1, the two retinoic acid hydroxylases
    • Topletz, A. R., J. E. Thatcher, A. Zelter, J. D. Lutz, and W. L. Su Tay, 2012 Comparison of the function and expression of cyp26a1 and cyp26b1, the two retinoic acid hydroxylases. Biochem. Pharmacol. 83(1): 149–163.
    • (2012) Biochem. Pharmacol , vol.83 , Issue.1 , pp. 149-163
    • Topletz, A.R.1    Thatcher, J.E.2    Zelter, A.3    Lutz, J.D.4    Tay, W.L.S.5
  • 87
    • 0024212303 scopus 로고
    • Molecular cloning of two types of gap complementary DNA from human placenta
    • Trahey, M., G. Wong, R. Halenbeck, B. Rubinfeld, G. A. Martin et al., 1988 Molecular cloning of two types of gap complementary DNA from human placenta. Science 242(4886): 1697– 1700.
    • (1988) Science , vol.242 , Issue.4886
    • Trahey, M.1    Wong, G.2    Halenbeck, R.3    Rubinfeld, B.4    Martin, G.A.5
  • 88
    • 0023240014 scopus 로고
    • A somatic cell hybrid with a single human chromosome 22 corrects the defect in the cho mutant (Ade–i) lacking adenylosuccinase activity. Cytogenet
    • Van Keuren, M. L., I. M. Hart, F.-T. Kao, R. L. Neve, G. A. P. Bruns et al., 1987 A somatic cell hybrid with a single human chromosome 22 corrects the defect in the cho mutant (ade–i) lacking adenylosuccinase activity. Cytogenet. Genome Res. 44(2–3): 142–147.
    • (1987) Genome Res , vol.44 , Issue.23 , pp. 142-147
    • Van Keuren, M.L.1    Hart, I.M.2    Kao, F.-T.3    Neve, R.L.4    Bruns, G.A.P.5
  • 89
    • 78650324852 scopus 로고    scopus 로고
    • An overview of composite likelihood methods. Stat
    • Varin, C., N. Reid, and D. Firth, 2011 An overview of composite likelihood methods. Stat. Sin. 21(1): 5–42.
    • (2011) Sin , vol.21 , Issue.1 , pp. 5-42
    • Varin, C.1    Reid, N.2    Firth, D.3
  • 90
    • 33644981509 scopus 로고    scopus 로고
    • A map of recent positive selection in the human genome
    • Voight, B. F., S. Kudaravalli, X. Wen, and J. K. Pritchard, 2006 A map of recent positive selection in the human genome. PLoS Biol. 4(3): e72.
    • (2006) Plos Biol , vol.4 , Issue.3
    • Voight, B.F.1    Kudaravalli, S.2    Wen, X.3    Pritchard, J.K.4
  • 91
    • 27544501017 scopus 로고    scopus 로고
    • Measures of human population structure show heterogeneity among genomic regions
    • Weir, B. S., L. R. Cardon, A. D. Anderson, M. D. Nielsen, and W. G. Hill, 2005 Measures of human population structure show heterogeneity among genomic regions. Genome Res. 15(11): 1468–1476.
    • (2005) Genome Res , vol.15 , Issue.11 , pp. 1468-1476
    • Weir, B.S.1    Cardon, L.R.2    Anderson, A.D.3    Nielsen, M.D.4    Hill, W.G.5
  • 92
    • 84891790401 scopus 로고    scopus 로고
    • The NHGRI GWAS catalog, a curated resource of SNP-trait associations
    • Welter, D., J. MacArthur, J. Morales, T. Burdett, P. Hall et al., 2014 The NHGRI GWAS catalog, a curated resource of SNP-trait associations. Nucleic Acids Res. 42(D1): D1001–D1006.
    • (2014) Nucleic Acids Res , vol.42 , Issue.1 , pp. D1001-D1006
    • Welter, D.1    Macarthur, J.2    Morales, J.3    Burdett, T.4    Hall, P.5
  • 93
    • 0034612252 scopus 로고    scopus 로고
    • Identification of the human cytochrome p450, p450rai-2, which is predominantly expressed in the adult cerebellum and is responsible for all-trans-retinoic acid metabolism
    • White, J. A., H. Ramshaw, M. Taimi, W. Stangle, A. Zhang et al., 2000 Identification of the human cytochrome p450, p450rai-2, which is predominantly expressed in the adult cerebellum and is responsible for all-trans-retinoic acid metabolism. Proc. Natl. Acad. Sci. USA 97(12): 6403–6408.
    • (2000) Proc. Natl. Acad. Sci , vol.97 , Issue.12 , pp. 6403-6408
    • White, J.A.1    Ramshaw, H.2    Taimi, M.3    Stangle, W.4    Zhang, A.5
  • 94
  • 95
    • 34447116242 scopus 로고    scopus 로고
    • A gabaergic system in airway epithelium is essential for mucus overproduction in asthma
    • Xiang, Y.-Y., S. Wang, M. Liu, J. A. Hirota, J. Li et al., 2007 A gabaergic system in airway epithelium is essential for mucus overproduction in asthma. Nat. Med. 13(7): 862–867.
    • (2007) Nat. Med , vol.13 , Issue.7 , pp. 862-867
    • Xiang, Y.-Y.1    Wang, S.2    Liu, M.3    Hirota, J.A.4    Li, J.5
  • 96
    • 77954319020 scopus 로고    scopus 로고
    • Sequencing of 50 human exomes reveals adaptation to high altitude
    • Yi, X., Y. Liang, E. Huerta-Sanchez, X. Jin, Z. X. Ping Cuo et al., 2010 Sequencing of 50 human exomes reveals adaptation to high altitude. Science 329(5987): 75–78.
    • (2010) Science , vol.329 , Issue.5987 , pp. 75-78
    • Yi, X.1    Liang, Y.2    Huerta-Sanchez, E.3    Jin, X.4    Ping Cuo, Z.X.5
  • 97
    • 77953231426 scopus 로고    scopus 로고
    • Evolutionary and functional analysis of celiac risk loci reveals sh2b3 as a protective factor against bacterial infection
    • Zhernakova, A., C. C. Elbers, B. Ferwerda, J. Romanos, G. Trynka et al., 2010 Evolutionary and functional analysis of celiac risk loci reveals sh2b3 as a protective factor against bacterial infection. Am. J. Hum. Genet. 86(6): 970–977.
    • (2010) Am. J. Hum. Genet , vol.86 , Issue.6 , pp. 970-977
    • Zhernakova, A.1    Elbers, C.C.2    Ferwerda, B.3    Romanos, J.4    Trynka, G.5


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