메뉴 건너뛰기




Volumn 19, Issue 2, 2008, Pages 133-143

Common statistical issues in genome-wide association studies: A review on power, data quality control, genotype calling and population structure

Author keywords

Coverage; Genome wide association study; Genotyping error; Population structure; Power; Quality control

Indexed keywords

CLUSTER ANALYSIS; GENOME ANALYSIS; GENOTYPE; POPULATION STRUCTURE; PRIORITY JOURNAL; QUALITY CONTROL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL ANALYSIS;

EID: 41649087155     PISSN: 09579672     EISSN: None     Source Type: Journal    
DOI: 10.1097/MOL.0b013e3282f5dd77     Document Type: Review
Times cited : (86)

References (73)
  • 1
    • 2042437650 scopus 로고    scopus 로고
    • Initial sequencing and analysis of the human genome
    • International Human Genome Sequencing Consortium
    • International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature 2001; 409:860-921.
    • (2001) Nature , vol.409 , pp. 860-921
  • 2
    • 0035895505 scopus 로고    scopus 로고
    • The sequence of the human genome
    • Venter JC, Adams MD, Myers EW, et al. The sequence of the human genome. Science 2001; 291:1304-1351.
    • (2001) Science , vol.291 , pp. 1304-1351
    • Venter, J.C.1    Adams, M.D.2    Myers, E.W.3
  • 3
    • 79959524146 scopus 로고    scopus 로고
    • A haplotype map of the human genome
    • International HapMap Consortium
    • International HapMap Consortium. A haplotype map of the human genome. Nature 2005; 437:1299-1320.
    • (2005) Nature , vol.437 , pp. 1299-1320
  • 4
    • 35348983887 scopus 로고    scopus 로고
    • International HapMap Consortium. A second generation human haplotype map of over 3.1 million SNPs. Nature 2007; 449:851-861. This report describes the findings from the second phase of the International HapMap project over 3.1 million SNPs, and provides a detailed discussion on the coverage of current genotyping platforms. In addition, the report discusses the structure of linkage disequilibrium and investigates the extent of recombination in the human genome.
    • International HapMap Consortium. A second generation human haplotype map of over 3.1 million SNPs. Nature 2007; 449:851-861. This report describes the findings from the second phase of the International HapMap project over 3.1 million SNPs, and provides a detailed discussion on the coverage of current genotyping platforms. In addition, the report discusses the structure of linkage disequilibrium and investigates the extent of recombination in the human genome.
  • 5
    • 0034118493 scopus 로고    scopus 로고
    • Inference of population structure using multilocus genotype data
    • Pritchard JK, Stephens M, Donnelly P. Inference of population structure using multilocus genotype data. Genetics 2000; 155:945-959.
    • (2000) Genetics , vol.155 , pp. 945-959
    • Pritchard, J.K.1    Stephens, M.2    Donnelly, P.3
  • 6
    • 0035071957 scopus 로고    scopus 로고
    • A new statistical method for haplotype reconstruction from population data
    • Stephens M, Smith N, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001; 68:978-989.
    • (2001) Am J Hum Genet , vol.68 , pp. 978-989
    • Stephens, M.1    Smith, N.2    Donnelly, P.3
  • 7
    • 0041817568 scopus 로고    scopus 로고
    • Inference of population structure using multilocus genotype data: Linked loci and correlated allele frequencies
    • Falush D, Stephens M, Pritchard JK. Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies. Genetics 2003; 164:1567-1587.
    • (2003) Genetics , vol.164 , pp. 1567-1587
    • Falush, D.1    Stephens, M.2    Pritchard, J.K.3
  • 8
    • 27644439141 scopus 로고    scopus 로고
    • Efficiency and power in genetic association studies
    • de Bakker PI, Yelensky R, Pe'er I, et al. Efficiency and power in genetic association studies. Nat Genet 2005; 37:1217-1223.
    • (2005) Nat Genet , vol.37 , pp. 1217-1223
    • de Bakker, P.I.1    Yelensky, R.2    Pe'er, I.3
  • 9
    • 33644974019 scopus 로고    scopus 로고
    • A fast and flexible statistical model for large-scale population genotype data: Applications to inferring missing genotypes and haplotypic phase
    • This article describes an extremely fast method for inferring the haplotypic phase from genotype data and has the ability to infer missing genotypes
    • Scheet P, Stephens M. A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase. Am J Hum Genet 2006; 78:629-644. This article describes an extremely fast method for inferring the haplotypic phase from genotype data and has the ability to infer missing genotypes.
    • (2006) Am J Hum Genet , vol.78 , pp. 629-644
    • Scheet, P.1    Stephens, M.2
  • 10
    • 33344458848 scopus 로고    scopus 로고
    • A comparison of phasing algorithms for trios and unrelated individuals
    • Marchini J, Cutler D, Patterson N, et al. A comparison of phasing algorithms for trios and unrelated individuals. Am J Hum Genet 2006; 78:437-450.
    • (2006) Am J Hum Genet , vol.78 , pp. 437-450
    • Marchini, J.1    Cutler, D.2    Patterson, N.3
  • 11
    • 33746512512 scopus 로고    scopus 로고
    • Principal components analysis corrects for stratification in genome-wide association studies
    • This article describes a procedure for detecting population structure in genetic data and also introduces a method for correcting the presence of population structure in an association study
    • Price AL, Patterson NJ, Plenge RM, et al. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 2006; 38:904-909. This article describes a procedure for detecting population structure in genetic data and also introduces a method for correcting the presence of population structure in an association study.
    • (2006) Nat Genet , vol.38 , pp. 904-909
    • Price, A.L.1    Patterson, N.J.2    Plenge, R.M.3
  • 12
    • 34247566504 scopus 로고    scopus 로고
    • An R package for analysis of whole-genome association studies
    • This article describes a user-friendly computational package for analyzing data from GWASs
    • Clayton D, Leung HT. An R package for analysis of whole-genome association studies. Hum Hered 2007; 64:45-51. This article describes a user-friendly computational package for analyzing data from GWASs.
    • (2007) Hum Hered , vol.64 , pp. 45-51
    • Clayton, D.1    Leung, H.T.2
  • 13
    • 84969213492 scopus 로고    scopus 로고
    • Genome-wide association study of 14 000 cases of seven common diseases and 3000 shared controls
    • This landmark study describes in detail a number of methodological issues related to GWASs and proposes a number of sophisticated solutions to these issues. This study also reports on seven GWASs for seven common human diseases conducted across a total of 17 000 individuals. Wellcome Trust Case Control Consortium
    • Wellcome Trust Case Control Consortium. Genome-wide association study of 14 000 cases of seven common diseases and 3000 shared controls. Nature 2007; 447:661-678. This landmark study describes in detail a number of methodological issues related to GWASs and proposes a number of sophisticated solutions to these issues. This study also reports on seven GWASs for seven common human diseases conducted across a total of 17 000 individuals.
    • (2007) Nature , vol.447 , pp. 661-678
  • 14
    • 34347344976 scopus 로고    scopus 로고
    • A new multipoint method for genome-wide association studies by imputation of genotypes
    • This article describes a sophisticated procedure to statistically infer genotypic information for all the SNPs in the International HapMap project from data in a genome-wide study, in essence performing in-silico fine mapping
    • Marchini J, Howie B, Myers S, et al. A new multipoint method for genome-wide association studies by imputation of genotypes. Nat Genet 2007; 39:906-913. This article describes a sophisticated procedure to statistically infer genotypic information for all the SNPs in the International HapMap project from data in a genome-wide study, in essence performing in-silico fine mapping.
    • (2007) Nat Genet , vol.39 , pp. 906-913
    • Marchini, J.1    Howie, B.2    Myers, S.3
  • 15
    • 35748941336 scopus 로고    scopus 로고
    • A genotype calling algorithm for the Illumina BeadArray platform
    • This article describes a calling algorithm for the Illumina BeadArray platform which, in addition to the usual genomic DNA, can also call genotypes for hybridization data from whole-genome amplified DNA
    • Teo YY, Inouye M, Small KS, et al. A genotype calling algorithm for the Illumina BeadArray platform. Bioinformatics 2007; 23:2741-2746. This article describes a calling algorithm for the Illumina BeadArray platform which, in addition to the usual genomic DNA, can also call genotypes for hybridization data from whole-genome amplified DNA.
    • (2007) Bioinformatics , vol.23 , pp. 2741-2746
    • Teo, Y.Y.1    Inouye, M.2    Small, K.S.3
  • 16
    • 13144306071 scopus 로고    scopus 로고
    • Genome-wide association studies for common diseases and complex traits
    • Hirschhorn JN, Daly MJ. Genome-wide association studies for common diseases and complex traits. Nat Rev Genet 2005; 6:95-108.
    • (2005) Nat Rev Genet , vol.6 , pp. 95-108
    • Hirschhorn, J.N.1    Daly, M.J.2
  • 17
    • 13144265739 scopus 로고    scopus 로고
    • Genome-wide association studies: Theoretical and practical concerns
    • Wang WY, Barratt BJ, Clayton DG, Todd JA. Genome-wide association studies: theoretical and practical concerns. Nat Rev Genet 2005; 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
  • 18
    • 34347341846 scopus 로고    scopus 로고
    • Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
    • Todd JA, Walker NM, Cooper JD, et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet 2007; 39:857-864.
    • (2007) Nat Genet , vol.39 , pp. 857-864
    • Todd, J.A.1    Walker, N.M.2    Cooper, J.D.3
  • 19
    • 34249888775 scopus 로고    scopus 로고
    • Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
    • Diabetes Genetics Institute
    • Diabetes Genetics Institute. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 2007; 316:1331-1336.
    • (2007) Science , vol.316 , pp. 1331-1336
  • 20
    • 34249895023 scopus 로고    scopus 로고
    • Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
    • Zeggini E, Weedon MN, Lindgren CM, et al. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 2007; 316:1336-1341.
    • (2007) Science , vol.316 , pp. 1336-1341
    • Zeggini, E.1    Weedon, M.N.2    Lindgren, C.M.3
  • 21
    • 34249885875 scopus 로고    scopus 로고
    • A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
    • Scott LJ, Mohlke KL, Bonnycastle LL, et al. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 2007; 316:1341-1345.
    • (2007) Science , vol.316 , pp. 1341-1345
    • Scott, L.J.1    Mohlke, K.L.2    Bonnycastle, L.L.3
  • 22
    • 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, et al. A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet 2007; 39:870-874.
    • (2007) Nat Genet , vol.39 , pp. 870-874
    • Hunter, D.J.1    Kraft, P.2    Jacobs, K.B.3
  • 23
    • 34250002140 scopus 로고    scopus 로고
    • Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer
    • Stacey SN, Manolescu A, Sulem P, et al. Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 2007; 39:865-869.
    • (2007) Nat Genet , vol.39 , pp. 865-869
    • Stacey, S.N.1    Manolescu, A.2    Sulem, P.3
  • 24
    • 34347324029 scopus 로고    scopus 로고
    • A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL2I
    • van Heel DA, Franke L, Hunt KA, et al. A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL2I. Nat Genet 2007; 39:827-829.
    • (2007) Nat Genet , vol.39 , pp. 827-829
    • van Heel, D.A.1    Franke, L.2    Hunt, K.A.3
  • 25
    • 34249777814 scopus 로고    scopus 로고
    • Variation in FTO contributes to childhood obesity and severe adult obesity
    • Dina C, Meyre D, Gallina S, et al. Variation in FTO contributes to childhood obesity and severe adult obesity. Nat Genet 2007; 39:724-726.
    • (2007) Nat Genet , vol.39 , pp. 724-726
    • Dina, C.1    Meyre, D.2    Gallina, S.3
  • 26
    • 34248594090 scopus 로고    scopus 로고
    • A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity
    • Frayling TM, Timpson NJ, Weedon MN, et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 2007; 316:889-894.
    • (2007) Science , vol.316 , pp. 889-894
    • Frayling, T.M.1    Timpson, N.J.2    Weedon, M.N.3
  • 27
    • 33748066971 scopus 로고    scopus 로고
    • Family-based versus unrelated case-control designs for genetic associations
    • Evangelou E, Trikalinos TA, Salanti G, Ioannidis JPA. Family-based versus unrelated case-control designs for genetic associations. PLoS Genet 2006; 2:1147-1155.
    • (2006) PLoS Genet , vol.2 , pp. 1147-1155
    • Evangelou, E.1    Trikalinos, T.A.2    Salanti, G.3    Ioannidis, J.P.A.4
  • 28
    • 0036094264 scopus 로고    scopus 로고
    • Power and efficiency of the TDT and case-control design for association scans
    • McGinnis R, Shifman S, Darvasi A. Power and efficiency of the TDT and case-control design for association scans. Beh Genet 2002; 32:135-144.
    • (2002) Beh Genet , vol.32 , pp. 135-144
    • McGinnis, R.1    Shifman, S.2    Darvasi, A.3
  • 30
    • 0035185344 scopus 로고    scopus 로고
    • Detecting association in a case-control study while correcting for population stratification
    • Reich DE, Goldstein DB. Detecting association in a case-control study while correcting for population stratification. Genet Epidemiol 2001; 20:4-16.
    • (2001) Genet Epidemiol , vol.20 , pp. 4-16
    • Reich, D.E.1    Goldstein, D.B.2
  • 31
    • 0037442092 scopus 로고    scopus 로고
    • Population stratification and spurious allelic association
    • Cardon LR, Paler LJ. Population stratification and spurious allelic association. Lancet 2003; 361:598-604.
    • (2003) Lancet , vol.361 , pp. 598-604
    • Cardon, L.R.1    Paler, L.J.2
  • 32
    • 12144285594 scopus 로고    scopus 로고
    • Assessing the impact of population stratification on genetic association studies
    • Freedman ML, Reich D, Penney KL, et al. Assessing the impact of population stratification on genetic association studies. Nat Genet 2004; 36:388-393.
    • (2004) Nat Genet , vol.36 , pp. 388-393
    • Freedman, M.L.1    Reich, D.2    Penney, K.L.3
  • 33
    • 2442585696 scopus 로고    scopus 로고
    • The effects of human population structure on large genetic association studies
    • Marchini J, Cardon LR, Phillips MS, Donnelly P. The effects of human population structure on large genetic association studies. Nat Genet 2004; 36:512-517.
    • (2004) Nat Genet , vol.36 , pp. 512-517
    • Marchini, J.1    Cardon, L.R.2    Phillips, M.S.3    Donnelly, P.4
  • 34
    • 11244279011 scopus 로고    scopus 로고
    • An Icelandic example of the impact of population structure on association studies
    • Helgason A, Yngvadóttir B, Hrafnkelsson B, et al. An Icelandic example of the impact of population structure on association studies. Nat Genet 2005; 37:90-95.
    • (2005) Nat Genet , vol.37 , pp. 90-95
    • Helgason, A.1    Yngvadóttir, B.2    Hrafnkelsson, B.3
  • 35
    • 1842539516 scopus 로고    scopus 로고
    • A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other
    • Nyholt DR. A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am J Hum Genet 2004; 74:765-769.
    • (2004) Am J Hum Genet , vol.74 , pp. 765-769
    • Nyholt, D.R.1
  • 36
    • 0344091561 scopus 로고    scopus 로고
    • Additional SNPs and linkagedisequilibrium analyses are necessary for whole-genome association studies in humans
    • Carlson CS, Eberle MA, Rieder MJ, et al. Additional SNPs and linkagedisequilibrium analyses are necessary for whole-genome association studies in humans. Nat Genet 2003; 33:518-521.
    • (2003) Nat Genet , vol.33 , pp. 518-521
    • Carlson, C.S.1    Eberle, M.A.2    Rieder, M.J.3
  • 37
    • 33750471977 scopus 로고    scopus 로고
    • Transferability of tag SNPs in genetic association studies in multiple populations
    • This article describes how transferable tagging SNPs are in general. This has important consequences for GWASs since most genotyping platforms use tagging SNPs to increase the effective coverage, and these tagging SNPs are typically identified from the four populations in the HapMap project
    • de Bakker PI, Burtt NP, Graham RR, et al. Transferability of tag SNPs in genetic association studies in multiple populations. Nat Genet 2006; 38:1298-1303. This article describes how transferable tagging SNPs are in general. This has important consequences for GWASs since most genotyping platforms use tagging SNPs to increase the effective coverage, and these tagging SNPs are typically identified from the four populations in the HapMap project.
    • (2006) Nat Genet , vol.38 , pp. 1298-1303
    • de Bakker, P.I.1    Burtt, N.P.2    Graham, R.R.3
  • 38
    • 33745279056 scopus 로고    scopus 로고
    • Evaluating coverage of genome-wide association studies
    • This article discusses the coverage of the human genome conferred by the earlier genotyping technologies, and is important for the understanding of how coverage can vary between populations
    • Barrett JC, Cardon LR. Evaluating coverage of genome-wide association studies. Nat Genet 2006; 38:659-662. This article discusses the coverage of the human genome conferred by the earlier genotyping technologies, and is important for the understanding of how coverage can vary between populations.
    • (2006) Nat Genet , vol.38 , pp. 659-662
    • Barrett, J.C.1    Cardon, L.R.2
  • 39
    • 0346373654 scopus 로고    scopus 로고
    • Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium
    • Carlson CS, Eberle MA, Rieder MJ, et al. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet 2004; 74:106-120.
    • (2004) Am J Hum Genet , vol.74 , pp. 106-120
    • Carlson, C.S.1    Eberle, M.A.2    Rieder, M.J.3
  • 40
    • 33750444621 scopus 로고    scopus 로고
    • A worldwide survey of haplotype variation and linkage disequilibrium in the human genome
    • This article reports an important finding related to the extent of haplotype diversity across multiple populations, and discusses in detail the applicability of genomewide studies across multiple populations
    • Conrad DF, Jakobsson M, Coop G, et al. A worldwide survey of haplotype variation and linkage disequilibrium in the human genome. Nat Genet 2006; 38:1251-1260. This article reports an important finding related to the extent of haplotype diversity across multiple populations, and discusses in detail the applicability of genomewide studies across multiple populations.
    • (2006) Nat Genet , vol.38 , pp. 1251-1260
    • Conrad, D.F.1    Jakobsson, M.2    Coop, G.3
  • 41
    • 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 JM, Cooper JD, Todd JA, Clayton DG. Detecting disease associations due to linkage disequilibrium using haplotype tags: a class of tests and the determinants of statistical power. Hum Hered 2003; 56:18-31.
    • (2003) Hum Hered , vol.56 , pp. 18-31
    • Chapman, J.M.1    Cooper, J.D.2    Todd, J.A.3    Clayton, D.G.4
  • 42
    • 10044279127 scopus 로고    scopus 로고
    • Use of unphased multilocus genotype data in indirect association studies
    • Clayton D, Chapman J, Cooper J. Use of unphased multilocus genotype data in indirect association studies. Genet Epidemiol 2004; 27:415-428.
    • (2004) Genet Epidemiol , vol.27 , pp. 415-428
    • Clayton, D.1    Chapman, J.2    Cooper, J.3
  • 43
    • 16844366786 scopus 로고    scopus 로고
    • Genome-wide strategies for detecting multiple loci that influence complex diseases
    • Marchini J, Donnelly P, Cardon LR. Genome-wide strategies for detecting multiple loci that influence complex diseases. Nat Genet 2005; 37:413-417.
    • (2005) Nat Genet , vol.37 , pp. 413-417
    • Marchini, J.1    Donnelly, P.2    Cardon, L.R.3
  • 44
    • 32044462533 scopus 로고    scopus 로고
    • Fine mapping of disease genes via haplotype clustering
    • Waldron ERB, Whittaker JC, Balding DJ. Fine mapping of disease genes via haplotype clustering. Genet Epi 2006; 30:170-179.
    • (2006) Genet Epi , vol.30 , pp. 170-179
    • Waldron, E.R.B.1    Whittaker, J.C.2    Balding, D.J.3
  • 45
    • 37549064336 scopus 로고    scopus 로고
    • Mach 1.0: Rapid haplotype reconstruction and missing genotype inference
    • This article describes a novel method for inferring both the haplotypic phase and missing data from unphased genotype data
    • Li Y, Abecasis GR. Mach 1.0: rapid haplotype reconstruction and missing genotype inference. Am J Hum Genet 2006; S79:2290. This article describes a novel method for inferring both the haplotypic phase and missing data from unphased genotype data.
    • (2006) Am J Hum Genet , vol.S79 , pp. 2290
    • Li, Y.1    Abecasis, G.R.2
  • 46
    • 34547622688 scopus 로고    scopus 로고
    • Imputation-based analysis of association studies: Candidate regions and quantitative traits
    • Servin B, Stephens M. Imputation-based analysis of association studies: candidate regions and quantitative traits. PLoS Genet 2007; 3:e114.
    • (2007) PLoS Genet , vol.3
    • Servin, B.1    Stephens, M.2
  • 47
    • 0042358733 scopus 로고    scopus 로고
    • Sample size calculations for population- and family-based case-control association studies on marker genotypes
    • Pfeiffer RM, Gail MH. Sample size calculations for population- and family-based case-control association studies on marker genotypes. Genet Epidemiol 2003; 25:136-148.
    • (2003) Genet Epidemiol , vol.25 , pp. 136-148
    • Pfeiffer, R.M.1    Gail, M.H.2
  • 48
    • 24344450191 scopus 로고    scopus 로고
    • Power and sample size calculations for genetic case/control studies using gene-centric SNP maps: Application to human chromosomes 6, 21, and 22 in three populations
    • De La Vega FM, Gordon D, Su X, et al. Power and sample size calculations for genetic case/control studies using gene-centric SNP maps: application to human chromosomes 6, 21, and 22 in three populations. Hum Hered 2005; 60:43-60.
    • (2005) Hum Hered , vol.60 , pp. 43-60
    • De La Vega, F.M.1    Gordon, D.2    Su, X.3
  • 49
    • 31744435871 scopus 로고    scopus 로고
    • Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies
    • Skol AD, Scott LJ, Abecasis GR, Boehnke M. Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet 2006; 38:209-213.
    • (2006) Nat Genet , vol.38 , pp. 209-213
    • Skol, A.D.1    Scott, L.J.2    Abecasis, G.R.3    Boehnke, M.4
  • 50
    • 0141557460 scopus 로고    scopus 로고
    • Algorithms for large-scale genotyping microarrays
    • Liu W, Di X, Yang G, et al. Algorithms for large-scale genotyping microarrays. Bioinformatics 2003; 19:2397-2403.
    • (2003) Bioinformatics , vol.19 , pp. 2397-2403
    • Liu, W.1    Di, X.2    Yang, G.3
  • 51
    • 20844440702 scopus 로고    scopus 로고
    • Dynamic model based algorithms for screening and genotyping over 100K SNPs on oligonucleotide microarrays
    • Di X, Matsuzaki H, Webster TA, et al. Dynamic model based algorithms for screening and genotyping over 100K SNPs on oligonucleotide microarrays. Bioinformatics 2005; 21:1958-1963.
    • (2005) Bioinformatics , vol.21 , pp. 1958-1963
    • Di, X.1    Matsuzaki, H.2    Webster, T.A.3
  • 52
    • 30344454706 scopus 로고    scopus 로고
    • A genotype calling algorithm for affymetrix SNP arrays
    • Rabbee N, Speed T. A genotype calling algorithm for affymetrix SNP arrays. Bioinformatics 2006; 1:7-12.
    • (2006) Bioinformatics , vol.1 , pp. 7-12
    • Rabbee, N.1    Speed, T.2
  • 53
    • 41649116439 scopus 로고    scopus 로고
    • Affymetrix Inc.BRLMM:an improved genotype calling method for theGeneChip Human Mapping 500K Array Set; 2006. http://www.affymetrix.com/support/technical/ whitepapers/brlmm_whitepaper.pdf. [Accessed 16 January 2007]
    • Affymetrix Inc.BRLMM:an improved genotype calling method for theGeneChip Human Mapping 500K Array Set; 2006. http://www.affymetrix.com/support/technical/ whitepapers/brlmm_whitepaper.pdf. [Accessed 16 January 2007]
  • 55
    • 34249693630 scopus 로고    scopus 로고
    • A method to address differential bias in genotyping in large scale association studies
    • Plagnol V, Cooper JD, Todd JA, Clayton DG. A method to address differential bias in genotyping in large scale association studies. PLoS Genet 2007; 3:e74.
    • (2007) PLoS Genet , vol.3
    • Plagnol, V.1    Cooper, J.D.2    Todd, J.A.3    Clayton, D.G.4
  • 56
    • 0037316303 scopus 로고    scopus 로고
    • A comparison of normalization methods for high density oligonucleotide array data based on variance and bias
    • Bolstad BM, Irizarry RA, Astrand M, Speed TP. A comparison of normalization methods for high density oligonucleotide array data based on variance and bias. Bioinformatics 2003; 19:185-193.
    • (2003) Bioinformatics , vol.19 , pp. 185-193
    • Bolstad, B.M.1    Irizarry, R.A.2    Astrand, M.3    Speed, T.P.4
  • 57
    • 35748983952 scopus 로고    scopus 로고
    • Artificial intelligence and global normalization methods for genotyping
    • US Patent, 20060224529
    • Kermani BG. Artificial intelligence and global normalization methods for genotyping. US Patent 2006; 20060224529.
    • (2006)
    • Kermani, B.G.1
  • 58
    • 27644546712 scopus 로고    scopus 로고
    • Population structure, differential bias and genomic control in a large-scale case-control association study
    • Clayton DG, Walker NM, Smyth DJ, et al. Population structure, differential bias and genomic control in a large-scale case-control association study. Nat Genet 2005; 37:1243-1246.
    • (2005) Nat Genet , vol.37 , pp. 1243-1246
    • Clayton, D.G.1    Walker, N.M.2    Smyth, D.J.3
  • 59
    • 34447647653 scopus 로고    scopus 로고
    • On the usage of HWE for identifying genotyping errors
    • Teo YY, Fry AE, Clark TG, et al. On the usage of HWE for identifying genotyping errors. Ann Hum Genet 2007; 71:701-703.
    • (2007) Ann Hum Genet , vol.71 , pp. 701-703
    • Teo, Y.Y.1    Fry, A.E.2    Clark, T.G.3
  • 60
    • 34547830829 scopus 로고    scopus 로고
    • A multiarray multi-SNP genotyping algorithm for Affymetrix SNP microarrays
    • Xiao Y, Segal MR, Yang YH, Yeh RF. A multiarray multi-SNP genotyping algorithm for Affymetrix SNP microarrays. Bioinformatics 2007; 23:1459-1467.
    • (2007) Bioinformatics , vol.23 , pp. 1459-1467
    • Xiao, Y.1    Segal, M.R.2    Yang, Y.H.3    Yeh, R.F.4
  • 61
    • 42149179227 scopus 로고    scopus 로고
    • Perturbation analysis: A simple method for filtering SNPs with erroneous genotyping in genome-wide association studies
    • in press
    • Teo YY, Small KS, Clark TG, Kwiatkowski DP. Perturbation analysis: a simple method for filtering SNPs with erroneous genotyping in genome-wide association studies. Ann Hum Genet (in press).
    • Ann Hum Genet
    • Teo, Y.Y.1    Small, K.S.2    Clark, T.G.3    Kwiatkowski, D.P.4
  • 62
    • 0028090414 scopus 로고
    • Genetic dissection of complex traits
    • Lander ES, Schork NJ. Genetic dissection of complex traits. Science 1994; 265:2037-2048.
    • (1994) Science , vol.265 , pp. 2037-2048
    • Lander, E.S.1    Schork, N.J.2
  • 64
    • 0034660559 scopus 로고    scopus 로고
    • Searching for genetic determinants in the new millennium
    • Risch NJ. Searching for genetic determinants in the new millennium. Nature 2000; 405:847-856.
    • (2000) Nature , vol.405 , pp. 847-856
    • Risch, N.J.1
  • 65
    • 0035257236 scopus 로고    scopus 로고
    • Association study designs for complex diseases
    • Cardon LR, Bell JI. Association study designs for complex diseases. Nat Rev Genet 2001; 2:91-99.
    • (2001) Nat Rev Genet , vol.2 , pp. 91-99
    • Cardon, L.R.1    Bell, J.I.2
  • 66
    • 0034574603 scopus 로고    scopus 로고
    • Use of population isolates for mapping complex traits
    • Peltonen L, Palotie A, Lange K. Use of population isolates for mapping complex traits. Nat Rev Genet 2001; 1:182-190.
    • (2001) Nat Rev Genet , vol.1 , pp. 182-190
    • Peltonen, L.1    Palotie, A.2    Lange, K.3
  • 67
    • 0036071296 scopus 로고    scopus 로고
    • Testing for population subdivision and association in four case-control studies
    • Ardlie KG, Lunetta KL, Seielstad M. Testing for population subdivision and association in four case-control studies. Am J Hum Genet 2002; 71:304-311.
    • (2002) Am J Hum Genet , vol.71 , pp. 304-311
    • Ardlie, K.G.1    Lunetta, K.L.2    Seielstad, M.3
  • 68
    • 0036277684 scopus 로고    scopus 로고
    • Point: Population stratification: a problem for case-control studies of candidate-gene associations?
    • Thomas DC, Witte JS. Point: population stratification: a problem for case-control studies of candidate-gene associations? Cancer Epidemiol Biomarkers Prev 2002; 11:505-512.
    • (2002) Cancer Epidemiol Biomarkers Prev , vol.11 , pp. 505-512
    • Thomas, D.C.1    Witte, J.S.2
  • 69
    • 0038445961 scopus 로고    scopus 로고
    • Human population structure and genetic association studies
    • Ziv E, Burchard EG. Human population structure and genetic association studies. Pharmacogenomics 2003; 4:431-441.
    • (2003) Pharmacogenomics , vol.4 , pp. 431-441
    • Ziv, E.1    Burchard, E.G.2
  • 70
    • 0032714352 scopus 로고    scopus 로고
    • Genomic control for association studies
    • Devlin B, Roeder K. Genomic control for association studies. Biometrics 1999; 55:997-1004.
    • (1999) Biometrics , vol.55 , pp. 997-1004
    • Devlin, B.1    Roeder, K.2
  • 72
    • 0035528928 scopus 로고    scopus 로고
    • Case-control studies of association in structured or admixed populations
    • Pritchard JK, Donnelly P. Case-control studies of association in structured or admixed populations. Theor Popul Biol 2001; 60:227-237.
    • (2001) Theor Popul Biol , vol.60 , pp. 227-237
    • Pritchard, J.K.1    Donnelly, P.2
  • 73
    • 33847022185 scopus 로고    scopus 로고
    • Genes, environment, health, and disease: Facing up to complexity
    • Manolio TA, Collins FS. Genes, environment, health, and disease: facing up to complexity. Hum Hered 2007; 63:63-66.
    • (2007) Hum Hered , vol.63 , pp. 63-66
    • Manolio, T.A.1    Collins, F.S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.