메뉴 건너뛰기




Volumn 3, Issue 12, 2008, Pages

Quantitative analysis of single nucleotide polymorphisms within copy number variation

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BAYES THEOREM; BEHAVIOR GENETICS; CONTROLLED STUDY; GENE DUPLICATION; GENE FREQUENCY; GENE NUMBER; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; MATHEMATICAL COMPUTING; MEASUREMENT ERROR; QUANTITATIVE ANALYSIS; SAMPLE SIZE; SINGLE NUCLEOTIDE POLYMORPHISM; BIOLOGICAL MODEL; GENE DOSAGE; GENE LINKAGE DISEQUILIBRIUM; HUMAN; METHODOLOGY; NUCLEOTIDE SEQUENCE;

EID: 58049094543     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0003906     Document Type: Article
Times cited : (33)

References (33)
  • 1
    • 0035865322 scopus 로고    scopus 로고
    • A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
    • Sachidanandam R, Weissman D, Schmidt SC, Kakol JM, Stein LD, et al. (2001) A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409: 928-933.
    • (2001) Nature , vol.409 , pp. 928-933
    • Sachidanandam, R.1    Weissman, D.2    Schmidt, S.C.3    Kakol, J.M.4    Stein, L.D.5
  • 2
    • 37049251476 scopus 로고
    • Mendelian porportions in a mixed population
    • Hardy GH (1908) Mendelian porportions in a mixed population. Science 28: 49-50.
    • (1908) Science , vol.28 , pp. 49-50
    • Hardy, G.H.1
  • 3
    • 0001319742 scopus 로고
    • Ü ber den Machweis der Vererbung beim Menschen.
    • Weinberg W (1908) Ü ber den Machweis der Vererbung beim Menschen. Jh Ver veterl Naturk Württemb 64: 369-382.
    • (1908) Jh Ver veterl Naturk Württemb , vol.64 , pp. 369-382
    • Weinberg, W.1
  • 4
    • 34250001297 scopus 로고    scopus 로고
    • A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer
    • Hunter DJ, Kraft P, Jacobs KB, Cox DG, Yeager M, et al. (2007) A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet 39: 870-874.
    • (2007) Nat Genet , vol.39 , pp. 870-874
    • Hunter, D.J.1    Kraft, P.2    Jacobs, K.B.3    Cox, D.G.4    Yeager, M.5
  • 5
    • 33744454405 scopus 로고    scopus 로고
    • Quantification of the power of Hardy-Weinberg equilibrium testing to detect genotyping error
    • Cox DG, Kraft P (2006) Quantification of the power of Hardy-Weinberg equilibrium testing to detect genotyping error. Human Heredity 61: 10-14.
    • (2006) Human Heredity , vol.61 , pp. 10-14
    • Cox, D.G.1    Kraft, P.2
  • 6
    • 34547204201 scopus 로고    scopus 로고
    • Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome
    • Korbel JO, Urban AE, Grubert F, Du J, Royce TE, et al. (2007) Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome. Proc Natl Acad Sci U S A 104: 10110-10115.
    • (2007) Proc Natl Acad Sci U S A , vol.104 , pp. 10110-10115
    • Korbel, J.O.1    Urban, A.E.2    Grubert, F.3    Du, J.4    Royce, T.E.5
  • 7
    • 33745373606 scopus 로고    scopus 로고
    • Primate segmental duplications: Crucibles of evolution, diversity and disease
    • Bailey JA, Eichler EE (2006) Primate segmental duplications: crucibles of evolution, diversity and disease. Nat Rev Genet 7: 552-564.
    • (2006) Nat Rev Genet , vol.7 , pp. 552-564
    • Bailey, J.A.1    Eichler, E.E.2
  • 11
    • 33751329250 scopus 로고    scopus 로고
    • Global variation in copy number in the human genome
    • Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, et al. (2006) Global variation in copy number in the human genome. Nature 444: 444-454.
    • (2006) Nature , vol.444 , pp. 444-454
    • Redon, R.1    Ishikawa, S.2    Fitch, K.R.3    Feuk, L.4    Perry, G.H.5
  • 12
    • 3242808027 scopus 로고    scopus 로고
    • Large-scale copy number polymorphism in the human genome
    • Sebat J, Lakshmi B, Troge J, Alexander J, Young J, et al. (2004) Large-scale copy number polymorphism in the human genome. Science 305: 525-528.
    • (2004) Science , vol.305 , pp. 525-528
    • Sebat, J.1    Lakshmi, B.2    Troge, J.3    Alexander, J.4    Young, J.5
  • 15
    • 33645124027 scopus 로고    scopus 로고
    • Bias of selection on human copy-number variants
    • Nguyen DQ, Webber C, Ponting CP (2006) Bias of selection on human copy-number variants. PLoS Genet 2: e20.
    • (2006) PLoS Genet , vol.2
    • Nguyen, D.Q.1    Webber, C.2    Ponting, C.P.3
  • 16
    • 33846006596 scopus 로고    scopus 로고
    • A comprehensive analysis of common copy-number variations in the human genome
    • Wong KK, deLeeuw RJ, Dosanjh NS, Kimm LR, Cheng Z, et al. (2007) A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet 80: 91-104.
    • (2007) Am J Hum Genet , vol.80 , pp. 91-104
    • Wong, K.K.1    deLeeuw, R.J.2    Dosanjh, N.S.3    Kimm, L.R.4    Cheng, Z.5
  • 17
    • 34247877877 scopus 로고    scopus 로고
    • QuantiSNP: An Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data
    • Colella S, Yau C, Taylor JM, Mirza G, Butler H, et al. (2007) QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data. Nucleic Acids Res 35: 2013-2025.
    • (2007) Nucleic Acids Res , vol.35 , pp. 2013-2025
    • Colella, S.1    Yau, C.2    Taylor, J.M.3    Mirza, G.4    Butler, H.5
  • 19
    • 27744560561 scopus 로고    scopus 로고
    • Detection of genotyping errors and pseudo-SNPs via deviations from Hardy-Weinberg equilibrium
    • Leal SM (2005) Detection of genotyping errors and pseudo-SNPs via deviations from Hardy-Weinberg equilibrium. Genet Epidemiol 29: 204-214.
    • (2005) Genet Epidemiol , vol.29 , pp. 204-214
    • Leal, S.M.1
  • 20
    • 0029843086 scopus 로고    scopus 로고
    • Testing for homogeneity of Hardy-Weinberg disequilibrium using data sampled from several populations
    • Olson JM, Foley M (1996) Testing for homogeneity of Hardy-Weinberg disequilibrium using data sampled from several populations. Biometrics 52: 971-979.
    • (1996) Biometrics , vol.52 , pp. 971-979
    • Olson, J.M.1    Foley, M.2
  • 21
    • 0024514402 scopus 로고
    • A disequilibrium coefficient approach to Hardy-Weinberg testing
    • Hernandez JL, Weir BS (1989) A disequilibrium coefficient approach to Hardy-Weinberg testing. Biometrics 45: 53-70.
    • (1989) Biometrics , vol.45 , pp. 53-70
    • Hernandez, J.L.1    Weir, B.S.2
  • 23
    • 0000448819 scopus 로고
    • A comparison of tests for Hardy-Weinberg Equilibrium
    • Emigh TH (1980) A comparison of tests for Hardy-Weinberg Equilibrium. Biometrics 36: 627-642.
    • (1980) Biometrics , vol.36 , pp. 627-642
    • Emigh, T.H.1
  • 24
    • 2442650305 scopus 로고    scopus 로고
    • Detection of genotyping errors by Hardy-Weinberg equilibrium testing
    • Hosking L, Lumsden S, Lewis K, Yeo A, McCarthy L, et al. (2004) Detection of genotyping errors by Hardy-Weinberg equilibrium testing. Eur J Hum Genet 12: 395-399.
    • (2004) Eur J Hum Genet , vol.12 , pp. 395-399
    • Hosking, L.1    Lumsden, S.2    Lewis, K.3    Yeo, A.4    McCarthy, L.5
  • 25
    • 3543040014 scopus 로고    scopus 로고
    • Complex SNP-related sequence variation in segmental genome duplications
    • Fredman D, White SJ, Potter S, Eichler EE, Den Dunnen JT, et al. (2004) Complex SNP-related sequence variation in segmental genome duplications. Nat Genet 36: 861-866.
    • (2004) Nat Genet , vol.36 , pp. 861-866
    • Fredman, D.1    White, S.J.2    Potter, S.3    Eichler, E.E.4    Den Dunnen, J.T.5
  • 26
    • 32544442291 scopus 로고    scopus 로고
    • Impact of violations and deviations in Hardy-Weinberg equilibrium on postulated gene-disease associations
    • Trikalinos TA, Salanti G, Khoury MJ, Ioannidis JP (2006) Impact of violations and deviations in Hardy-Weinberg equilibrium on postulated gene-disease associations. Am J Epidemiol 163: 300-309.
    • (2006) Am J Epidemiol , vol.163 , pp. 300-309
    • Trikalinos, T.A.1    Salanti, G.2    Khoury, M.J.3    Ioannidis, J.P.4
  • 27
    • 0842310835 scopus 로고    scopus 로고
    • Intense and highly localized gene conversion activity in human meiotic crossover hot spots
    • Jeffreys AJ, May CA (2004) Intense and highly localized gene conversion activity in human meiotic crossover hot spots. Nat Genet 36: 151-156.
    • (2004) Nat Genet , vol.36 , pp. 151-156
    • Jeffreys, A.J.1    May, C.A.2
  • 28
    • 0037967231 scopus 로고    scopus 로고
    • Abundant gene conversion between arms of palindromes in human and ape Y chromosomes
    • Rozen S, Skaletsky H, Marszalek JD, Minx PJ, Cordum HS, et al. (2003) Abundant gene conversion between arms of palindromes in human and ape Y chromosomes. Nature 423: 873-876.
    • (2003) Nature , vol.423 , pp. 873-876
    • Rozen, S.1    Skaletsky, H.2    Marszalek, J.D.3    Minx, P.J.4    Cordum, H.S.5
  • 29
    • 0031928374 scopus 로고    scopus 로고
    • A Bayesian characterization of Hardy-Weinberg disequilibrium
    • Shoemaker J, Painter I, Weir BS (1998) A Bayesian characterization of Hardy-Weinberg disequilibrium. Genetics 149: 2079-2088.
    • (1998) Genetics , vol.149 , pp. 2079-2088
    • Shoemaker, J.1    Painter, I.2    Weir, B.S.3
  • 30
    • 0003458692 scopus 로고    scopus 로고
    • Council NR , Washington, D.C, USA: National Academy Press
    • Council NR (1996) The evaluation of Forensic DNA Evidence. Washington, D.C., USA: National Academy Press.
    • (1996) The evaluation of Forensic DNA Evidence
  • 31
    • 0035109379 scopus 로고    scopus 로고
    • Population admixture: Detection by Hardy-Weinberg test and its quantitative effects on linkage-disequilibrium methods for localizing genes underlying complex traits
    • Deng HW, Chen WM, Recker RR (2001) Population admixture: detection by Hardy-Weinberg test and its quantitative effects on linkage-disequilibrium methods for localizing genes underlying complex traits. Genetics 157: 885-897.
    • (2001) Genetics , vol.157 , pp. 885-897
    • Deng, H.W.1    Chen, W.M.2    Recker, R.R.3
  • 32
    • 42949172329 scopus 로고    scopus 로고
    • A panel of ancestry informative markers for estimating individual biogeographical ancestry and admixture from four continents: Utility and applications
    • Halder I, Shriver M, Thomas M, Fernandez JR, Frudakis T (2008) A panel of ancestry informative markers for estimating individual biogeographical ancestry and admixture from four continents: utility and applications. Hum Mutat 29: 648-658.
    • (2008) Hum Mutat , vol.29 , pp. 648-658
    • Halder, I.1    Shriver, M.2    Thomas, M.3    Fernandez, J.R.4    Frudakis, T.5
  • 33
    • 33746610267 scopus 로고    scopus 로고
    • Matrix-assisted laser desorption/ionisation, time-of-flight mass spectrometry in genomics research
    • Ragoussis J, Elvidge GP, Kaur K, Colella S (2006) Matrix-assisted laser desorption/ionisation, time-of-flight mass spectrometry in genomics research. PLoS Genet 2: e100.
    • (2006) PLoS Genet , vol.2
    • Ragoussis, J.1    Elvidge, G.P.2    Kaur, K.3    Colella, S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.