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Volumn 9, Issue , 2007, Pages 289-320

SNP genotyping: Technologies and biomedical applications

Author keywords

Association study; High throughput; Mutation; Pharmacogenomics; Sequence variation; Single nucleotide polymorphism

Indexed keywords

COST EFFECTIVENESS; DATABASE SYSTEMS; GENETIC ENGINEERING; MOLECULAR BIOLOGY; NUCLEOTIDES; PHYSIOLOGY;

EID: 35348847064     PISSN: 15239829     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.bioeng.9.060906.152037     Document Type: Review
Times cited : (484)

References (136)
  • 1
    • 0032429154 scopus 로고    scopus 로고
    • A DNA polymorphism discovery resource for research on human genetic variation
    • Collins FS, Brooks LD, Chakravarti A. 1998. A DNA polymorphism discovery resource for research on human genetic variation. Genome Res. 8:1229-31
    • (1998) Genome Res , vol.8 , pp. 1229-1231
    • Collins, F.S.1    Brooks, L.D.2    Chakravarti, A.3
  • 2
    • 0037432755 scopus 로고    scopus 로고
    • The Human Genome Project: Lessons from large-scale biology
    • Collins FS, Morgan M, Patrinos A. 2003. The Human Genome Project: lessons from large-scale biology. Science 300:286-90
    • (2003) Science , vol.300 , pp. 286-290
    • Collins, F.S.1    Morgan, M.2    Patrinos, A.3
  • 3
    • 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 409:928-33
    • (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
  • 5
    • 33645736866 scopus 로고    scopus 로고
    • Rocha D, Gut I, Jeffreys AJ, Kwok PY, Brookes AJ, Chanock SJ. 2006. Seventh international meeting on single nucleotide polymorphism and complex genome analysis: ever bigger scans and an increasingly variable genome. Hum. Genet. 119:451-56
    • Rocha D, Gut I, Jeffreys AJ, Kwok PY, Brookes AJ, Chanock SJ. 2006. Seventh international meeting on single nucleotide polymorphism and complex genome analysis: "ever bigger scans and an increasingly variable genome." Hum. Genet. 119:451-56
  • 8
    • 0036081484 scopus 로고    scopus 로고
    • HGVbase: A human sequence variation database emphasizing data quality and a broad spectrum of data sources
    • Fredman D, Siegfried M, Yuan Y, Bork P, Lehväslaiho H, Brookes A. 2002. HGVbase: a human sequence variation database emphasizing data quality and a broad spectrum of data sources. Nucleic Acids Res. 30:387-91
    • (2002) Nucleic Acids Res , vol.30 , pp. 387-391
    • Fredman, D.1    Siegfried, M.2    Yuan, Y.3    Bork, P.4    Lehväslaiho, H.5    Brookes, A.6
  • 9
    • 13844313862 scopus 로고    scopus 로고
    • Whole-genome patterns of common DNA variation in three human populations
    • Hinds D, Stuve L, Nilsen G, Halperin E, Eskin E, et al. 2005. Whole-genome patterns of common DNA variation in three human populations. Science 307:1072-79
    • (2005) Science , vol.307 , pp. 1072-1079
    • Hinds, D.1    Stuve, L.2    Nilsen, G.3    Halperin, E.4    Eskin, E.5
  • 12
    • 9144266311 scopus 로고    scopus 로고
    • SNP 500 Cancer: A public resource for sequence validation and assay development for genetic variation in candidate genes
    • Packer BR, Yeager M, Burdett L, Welch R, Beerman M, et al. 2004. SNP 500 Cancer: a public resource for sequence validation and assay development for genetic variation in candidate genes. Nucleic Acids Res. 32:528-32
    • (2004) Nucleic Acids Res , vol.32 , pp. 528-532
    • Packer, B.R.1    Yeager, M.2    Burdett, L.3    Welch, R.4    Beerman, M.5
  • 15
    • 33745022850 scopus 로고    scopus 로고
    • Cytokine gene polymorphism in human disease: On-line databases, Supplement 3
    • Hollegaard M, Bidwell J. 2006. Cytokine gene polymorphism in human disease: on-line databases, Supplement 3. Genes Immun. 7:269-76
    • (2006) Genes Immun , vol.7 , pp. 269-276
    • Hollegaard, M.1    Bidwell, J.2
  • 16
    • 0032997217 scopus 로고    scopus 로고
    • The essence of SNPs
    • Brookes AJ. 1999. The essence of SNPs. Gene 234:177-86
    • (1999) Gene , vol.234 , pp. 177-186
    • Brookes, A.J.1
  • 17
    • 0032524383 scopus 로고    scopus 로고
    • Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome
    • Wang DG, Fan JB, Siao CJ, Berno A, Young P, et al. 1998. Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science 280:1077-82
    • (1998) Science , vol.280 , pp. 1077-1082
    • Wang, D.G.1    Fan, J.B.2    Siao, C.J.3    Berno, A.4    Young, P.5
  • 18
    • 0026053092 scopus 로고
    • Low nucleotide diversity in man
    • Li WH, Sadler LA. 1991. Low nucleotide diversity in man. Genetics 129:513-23
    • (1991) Genetics , vol.129 , pp. 513-523
    • Li, W.H.1    Sadler, L.A.2
  • 19
  • 20
    • 0033810469 scopus 로고    scopus 로고
    • Single nucleotide polymorphisms and the future of genetic epidemiology
    • Schork NJ, Fallin D, Lanchbury JS. 2000. Single nucleotide polymorphisms and the future of genetic epidemiology. Clin. Genet. 58:250-64
    • (2000) Clin. Genet , vol.58 , pp. 250-264
    • Schork, N.J.1    Fallin, D.2    Lanchbury, J.S.3
  • 21
    • 0035399728 scopus 로고    scopus 로고
    • SNP association studies in Alzheimer's disease highlight problems for complex disease analysis
    • Emahazion T, Feuk L, Jobs M, Sawyer SL, Fredman D, et al. 2001. SNP association studies in Alzheimer's disease highlight problems for complex disease analysis. Trends Genet. 17:407-13
    • (2001) Trends Genet , vol.17 , pp. 407-413
    • Emahazion, T.1    Feuk, L.2    Jobs, M.3    Sawyer, S.L.4    Fredman, D.5
  • 22
    • 14844303718 scopus 로고    scopus 로고
    • Genotyping single nucleotide polymorphisms by MALDI mass spectrometry in clinical applications
    • Tost J, Gut IG. 2005. Genotyping single nucleotide polymorphisms by MALDI mass spectrometry in clinical applications. Clin. Biochem. 38:335-50
    • (2005) Clin. Biochem , vol.38 , pp. 335-350
    • Tost, J.1    Gut, I.G.2
  • 23
    • 0032702161 scopus 로고    scopus 로고
    • Single nucleotide polymorphism libraries: Why and how are we building them?
    • Kwok PY, Gu Z. 1999. Single nucleotide polymorphism libraries: why and how are we building them? Mol. Med. Today 5:538-43
    • (1999) Mol. Med. Today , vol.5 , pp. 538-543
    • Kwok, P.Y.1    Gu, Z.2
  • 24
    • 4544354775 scopus 로고    scopus 로고
    • Genotyping as a tool to predict adverse drug reactions
    • Güzey C, Spigset O. 2004. Genotyping as a tool to predict adverse drug reactions. Curr. Top Med. Chem. 4:1411-21
    • (2004) Curr. Top Med. Chem , vol.4 , pp. 1411-1421
    • Güzey, C.1    Spigset, O.2
  • 25
    • 0035369825 scopus 로고    scopus 로고
    • Genetic susceptibility to adverse drug reactions
    • Pirmohamed M, Park BK. 2001. Genetic susceptibility to adverse drug reactions. Trends Pharmacol. Sci. 22:298-305
    • (2001) Trends Pharmacol. Sci , vol.22 , pp. 298-305
    • Pirmohamed, M.1    Park, B.K.2
  • 26
    • 0036024997 scopus 로고    scopus 로고
    • SNP databases and pharmacogenetics: Great start, but a long way to go
    • Marsh S, Kwok P, McLeod HL. 2002. SNP databases and pharmacogenetics: great start, but a long way to go. Hum. Mutat. 20:174-79
    • (2002) Hum. Mutat , vol.20 , pp. 174-179
    • Marsh, S.1    Kwok, P.2    McLeod, H.L.3
  • 27
    • 0034022213 scopus 로고    scopus 로고
    • The use of single-nucleotide polymorphism maps in pharmacogenomics
    • McCarthy JJ, Hilfiker R. 2000. The use of single-nucleotide polymorphism maps in pharmacogenomics. Nat. Biotechnol. 18:505-8
    • (2000) Nat. Biotechnol , vol.18 , pp. 505-508
    • McCarthy, J.J.1    Hilfiker, R.2
  • 30
    • 0035010640 scopus 로고    scopus 로고
    • Automation in genotyping of single nucleotide polymorphisms
    • Gut IG. 2001. Automation in genotyping of single nucleotide polymorphisms. Hum. Mutat. 17:475-92
    • (2001) Hum. Mutat , vol.17 , pp. 475-492
    • Gut, I.G.1
  • 31
    • 0035654137 scopus 로고    scopus 로고
    • Accessing genetic variation: Genotyping single nucleotide polymorphisms
    • Syvänen AC. 2001. Accessing genetic variation: genotyping single nucleotide polymorphisms. Nat. Rev. Genet. 2:930-42
    • (2001) Nat. Rev. Genet , vol.2 , pp. 930-942
    • Syvänen, A.C.1
  • 32
    • 0035776497 scopus 로고    scopus 로고
    • Methods for genotyping single nucleotide polymorphisms
    • Kwok PY. 2001. Methods for genotyping single nucleotide polymorphisms. Annu. Rev. Genomics Hum. Genet. 2:235-58
    • (2001) Annu. Rev. Genomics Hum. Genet , vol.2 , pp. 235-258
    • Kwok, P.Y.1
  • 35
    • 0025297777 scopus 로고
    • Primer extension technique for the detection of single nucleotide in genomic DNA
    • Sokolov BP. 1990. Primer extension technique for the detection of single nucleotide in genomic DNA. Nucleic Acids Res. 18:3671
    • (1990) Nucleic Acids Res , vol.18 , pp. 3671
    • Sokolov, B.P.1
  • 36
    • 0031734601 scopus 로고    scopus 로고
    • High level multiplex genotyping by MALDI-TOF mass spectrometry
    • Ross P, Hall L, Smirnov I, Haff L. 1998. High level multiplex genotyping by MALDI-TOF mass spectrometry. Nat. Biotechnol. 16:1347-51
    • (1998) Nat. Biotechnol , vol.16 , pp. 1347-1351
    • Ross, P.1    Hall, L.2    Smirnov, I.3    Haff, L.4
  • 37
    • 0030890116 scopus 로고    scopus 로고
    • Single-nucleotide polymorphism identification assays using a thermostable DNA polymerase and delayed extraction MALDI-TOF mass spectrometry
    • Haff LA, Smirnov IP. 1997. Single-nucleotide polymorphism identification assays using a thermostable DNA polymerase and delayed extraction MALDI-TOF mass spectrometry. Genome Res. 7:378-88
    • (1997) Genome Res , vol.7 , pp. 378-388
    • Haff, L.A.1    Smirnov, I.P.2
  • 38
    • 0030852959 scopus 로고    scopus 로고
    • Detecting CFTR gene mutations by using primer oligo base extension and mass spectrometry
    • Braun A, Little DP, Köster H. 1997. Detecting CFTR gene mutations by using primer oligo base extension and mass spectrometry. Clin. Chem. 43:1151-58
    • (1997) Clin. Chem , vol.43 , pp. 1151-1158
    • Braun, A.1    Little, D.P.2    Köster, H.3
  • 39
    • 0035201442 scopus 로고    scopus 로고
    • Population distribution of human flavin-containing monooxygenase form 3: Gene polymorphisms
    • Cashman J, Zhang J, Leushner J, Braun A. 2001. Population distribution of human flavin-containing monooxygenase form 3: gene polymorphisms. Drug Metabol. Dispos. 29:1629-37
    • (2001) Drug Metabol. Dispos , vol.29 , pp. 1629-1637
    • Cashman, J.1    Zhang, J.2    Leushner, J.3    Braun, A.4
  • 40
    • 0037102334 scopus 로고    scopus 로고
    • Solid phase capturable dideoxynucleotides for multiplex genotyping using mass spectrometry
    • Kim S, Edwards JR, Deng L, Chung W, Ju J. 2002. Solid phase capturable dideoxynucleotides for multiplex genotyping using mass spectrometry. Nucleic Acids Res. 30:e85
    • (2002) Nucleic Acids Res , vol.30
    • Kim, S.1    Edwards, J.R.2    Deng, L.3    Chung, W.4    Ju, J.5
  • 42
    • 0032103987 scopus 로고    scopus 로고
    • MALDI-TOF mass spectrometric typing of single nucleotide polymorphisms with mass-tagged ddNTPs
    • Fei Z, Ono T, Smith LM. 1998. MALDI-TOF mass spectrometric typing of single nucleotide polymorphisms with mass-tagged ddNTPs. Nucleic Acids Res. 26:2827-28
    • (1998) Nucleic Acids Res , vol.26 , pp. 2827-2828
    • Fei, Z.1    Ono, T.2    Smith, L.M.3
  • 43
    • 0037930756 scopus 로고    scopus 로고
    • Extension of the GOOD assay for genotyping single nucleotide polymorphisms by matrix-assisted laser desorption/ionization mass spectrometry
    • Sauer S, Gut IG. 2003. Extension of the GOOD assay for genotyping single nucleotide polymorphisms by matrix-assisted laser desorption/ionization mass spectrometry. Rapid Commun. Mass Spectrom. 17:1265-72
    • (2003) Rapid Commun. Mass Spectrom , vol.17 , pp. 1265-1272
    • Sauer, S.1    Gut, I.G.2
  • 44
    • 0344441425 scopus 로고    scopus 로고
    • Digital genotyping using molecular affinity and mass spectrometry
    • Kim S, Ruparel HD, Gilliam TC, Ju J. 2003. Digital genotyping using molecular affinity and mass spectrometry. Nat. Rev. Genet. 4:1001-8
    • (2003) Nat. Rev. Genet , vol.4 , pp. 1001-1008
    • Kim, S.1    Ruparel, H.D.2    Gilliam, T.C.3    Ju, J.4
  • 45
    • 1842815898 scopus 로고    scopus 로고
    • Thirtyfold multiplex genotyping of the p53 gene using solid phase capturable dideoxynucleotides and mass spectrometry
    • Kim S, Ulz ME, Nguyen T, Li CM, Sato T, et al. 2004. Thirtyfold multiplex genotyping of the p53 gene using solid phase capturable dideoxynucleotides and mass spectrometry. Genomics 83:924-31
    • (2004) Genomics , vol.83 , pp. 924-931
    • Kim, S.1    Ulz, M.E.2    Nguyen, T.3    Li, C.M.4    Sato, T.5
  • 46
    • 0346449444 scopus 로고    scopus 로고
    • SNP genotyping on pooled DNAs: Comparison of genotyping technologies and a semi automated method for data storage and analysis
    • Le Hellard S, Ballereau SJ, Visscher PM, Torrance HS, Pinson J, et al. 2002. SNP genotyping on pooled DNAs: comparison of genotyping technologies and a semi automated method for data storage and analysis. Nucleic Acids Res. 30:e74
    • (2002) Nucleic Acids Res , vol.30
    • Le Hellard, S.1    Ballereau, S.J.2    Visscher, P.M.3    Torrance, H.S.4    Pinson, J.5
  • 48
    • 0033936872 scopus 로고    scopus 로고
    • Parallel genotyping of human SNPs using generic high-density oligonucleotide tag arrays
    • Fan JB, Chen X, Halushka MK, Berno A, Huang X, et al. 2000. Parallel genotyping of human SNPs using generic high-density oligonucleotide tag arrays. Genome Res. 10:853-60
    • (2000) Genome Res , vol.10 , pp. 853-860
    • Fan, J.B.1    Chen, X.2    Halushka, M.K.3    Berno, A.4    Huang, X.5
  • 50
    • 0028097071 scopus 로고
    • Genetic bit analysis: A solid phase method for typing single nucleotide polymorphisms
    • Nikiforov TT, Rendle RB, Goelet P, Rogers YH, Kotewicz ML, et al. 1994. Genetic bit analysis: a solid phase method for typing single nucleotide polymorphisms. Nucleic Acids Res. 22:4167-75
    • (1994) Nucleic Acids Res , vol.22 , pp. 4167-4175
    • Nikiforov, T.T.1    Rendle, R.B.2    Goelet, P.3    Rogers, Y.H.4    Kotewicz, M.L.5
  • 51
    • 0036598550 scopus 로고    scopus 로고
    • SNPstream UHT: Ultrahigh throughput SNP genotyping for pharmacogenomics and drug discovery
    • 74Suppl, 70-72, 74
    • Bell PA, Chaturvedi S, Gelfand CA, Huang CY, Kochersperger M, et al. 2002. SNPstream UHT: ultrahigh throughput SNP genotyping for pharmacogenomics and drug discovery. Biotechniques 74(Suppl.):70-72, 74, 76-77
    • (2002) Biotechniques , pp. 76-77
    • Bell, P.A.1    Chaturvedi, S.2    Gelfand, C.A.3    Huang, C.Y.4    Kochersperger, M.5
  • 52
    • 0030810721 scopus 로고    scopus 로고
    • Minisequencing: A specific tool for DNA analysis and diagnostics on oligonucleotide arrays
    • Pastinen T, Kurg A, Metspalu A, Peltonen L, Syvänen AC. 1997. Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays. Genome Res. 7:606-14
    • (1997) Genome Res , vol.7 , pp. 606-614
    • Pastinen, T.1    Kurg, A.2    Metspalu, A.3    Peltonen, L.4    Syvänen, A.C.5
  • 53
    • 0035184567 scopus 로고    scopus 로고
    • SNP genotyping by multiplexed solid-phase amplification and fluorescent minisequencing
    • Shapero MH, Leuther KK, Nguyen A, Scott M, Jones KW. 2001. SNP genotyping by multiplexed solid-phase amplification and fluorescent minisequencing. Genome Res. 11:1926-34
    • (2001) Genome Res , vol.11 , pp. 1926-1934
    • Shapero, M.H.1    Leuther, K.K.2    Nguyen, A.3    Scott, M.4    Jones, K.W.5
  • 54
    • 0024524650 scopus 로고
    • Detection of single DNA base differences by competitive oligonucleotide priming
    • Gibbs RA, Nguyen PN, Caskey CT. 1989. Detection of single DNA base differences by competitive oligonucleotide priming. Nucleic Acids Res. 17:2437-48
    • (1989) Nucleic Acids Res , vol.17 , pp. 2437-2448
    • Gibbs, R.A.1    Nguyen, P.N.2    Caskey, C.T.3
  • 55
    • 0035087376 scopus 로고    scopus 로고
    • High-performance multiplex SNP analysis of three hemochromatosis-related mutations with capillary array electrophoresis microplates
    • Medintz I, Wong WW, Berti L, Shiow L, Tom J, et al. 2001. High-performance multiplex SNP analysis of three hemochromatosis-related mutations with capillary array electrophoresis microplates. Genome Res. 11:413-21
    • (2001) Genome Res , vol.11 , pp. 413-421
    • Medintz, I.1    Wong, W.W.2    Berti, L.3    Shiow, L.4    Tom, J.5
  • 56
    • 0037083663 scopus 로고    scopus 로고
    • High-throughput single-nucleotide polymorphism genotyping by fluorescent competitive allele-specific polymerase chain reaction (SNiPTag)
    • McClay JL, Sugden K, Koch HG, Higuchi S, Craig IW. 2002. High-throughput single-nucleotide polymorphism genotyping by fluorescent competitive allele-specific polymerase chain reaction (SNiPTag). Anal. Biochem. 301:200-6
    • (2002) Anal. Biochem , vol.301 , pp. 200-206
    • McClay, J.L.1    Sugden, K.2    Koch, H.G.3    Higuchi, S.4    Craig, I.W.5
  • 57
    • 0038723184 scopus 로고    scopus 로고
    • Enhanced allele-specific PCR discrimination in SNP genotyping using 3′ locked nucleic acid (LNA) primers
    • Latorra D, Campbell K, Wolter A, Hurley JM. 2003. Enhanced allele-specific PCR discrimination in SNP genotyping using 3′ locked nucleic acid (LNA) primers. Hum. Mutat. 22:79-85
    • (2003) Hum. Mutat , vol.22 , pp. 79-85
    • Latorra, D.1    Campbell, K.2    Wolter, A.3    Hurley, J.M.4
  • 58
    • 44049116548 scopus 로고
    • Detection of specific alleles by using allele-specific primer extension followed by capture on solid support
    • Ugozzoli L, Wahlqvist JM, Ehsani A, Kaplan BE, Wallace RB. 1992. Detection of specific alleles by using allele-specific primer extension followed by capture on solid support. Genet. Anal. Tech. Appl. 9:107-12
    • (1992) Genet. Anal. Tech. Appl , vol.9 , pp. 107-112
    • Ugozzoli, L.1    Wahlqvist, J.M.2    Ehsani, A.3    Kaplan, B.E.4    Wallace, R.B.5
  • 59
    • 7044235686 scopus 로고    scopus 로고
    • Analytical validation of the tag-it high-throughput microsphere-based universal array genotyping platform: Application to the multiplex detection of a panel of thrombophilia-associated single-nucleotide polymorphisms
    • Bortolin S, Black M, Modi H, Boszko I, Kobler D, et al. 2004. Analytical validation of the tag-it high-throughput microsphere-based universal array genotyping platform: application to the multiplex detection of a panel of thrombophilia-associated single-nucleotide polymorphisms. Clin. Chem. 50:2028-36
    • (2004) Clin. Chem , vol.50 , pp. 2028-2036
    • Bortolin, S.1    Black, M.2    Modi, H.3    Boszko, I.4    Kobler, D.5
  • 61
    • 12144286180 scopus 로고    scopus 로고
    • Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array
    • Matsuzaki H, Loi H, Dong S, Tsai YY, Fang J, et al. 2004. Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array. Genome Res. 14:414-25
    • (2004) Genome Res , vol.14 , pp. 414-425
    • Matsuzaki, H.1    Loi, H.2    Dong, S.3    Tsai, Y.Y.4    Fang, J.5
  • 62
    • 20844455582 scopus 로고    scopus 로고
    • Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays
    • Matsuzaki H, Dong S, Loi H, Di X, Liu G, et al. 2004. Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays. Nat. Methods 1:109-11
    • (2004) Nat. Methods , vol.1 , pp. 109-111
    • Matsuzaki, H.1    Dong, S.2    Loi, H.3    Di, X.4    Liu, G.5
  • 63
    • 0025861818 scopus 로고
    • Detection of specific polymerase chain reaction product by utilizing the 5′-3′ exonuclease activity of Thermus aquaticus DNA polymerase
    • Holland PM, Abramson RD, Watson R, Gelfand DH. 1991. Detection of specific polymerase chain reaction product by utilizing the 5′-3′ exonuclease activity of Thermus aquaticus DNA polymerase. Proc. Natl. Acad. Sci. 88:7276-80
    • (1991) Proc. Natl. Acad. Sci , vol.88 , pp. 7276-7280
    • Holland, P.M.1    Abramson, R.D.2    Watson, R.3    Gelfand, D.H.4
  • 64
    • 0033006003 scopus 로고    scopus 로고
    • Allelic discrimination using fluorogenic probes and the 5′ nuclease assay
    • Livak KJ. 1999. Allelic discrimination using fluorogenic probes and the 5′ nuclease assay. Genet. Anal. 14:143-49
    • (1999) Genet. Anal , vol.14 , pp. 143-149
    • Livak, K.J.1
  • 65
    • 0031437217 scopus 로고    scopus 로고
    • Genetic analysis by peptide nucleic acid affinity MALDI-TOF mass spectrometry
    • Griffin TJ, Tang W, Smith LM. 1997. Genetic analysis by peptide nucleic acid affinity MALDI-TOF mass spectrometry. Nat. Biotechnol. 15:1368-72
    • (1997) Nat. Biotechnol , vol.15 , pp. 1368-1372
    • Griffin, T.J.1    Tang, W.2    Smith, L.M.3
  • 66
    • 0031572434 scopus 로고    scopus 로고
    • Discrimination of single-nucleotide polymorphisms in human DNA using peptide nucleic acid probes detected by MALDI-TOF mass spectrometry
    • Ross PL, Lee K, Belgrader P. 1997. Discrimination of single-nucleotide polymorphisms in human DNA using peptide nucleic acid probes detected by MALDI-TOF mass spectrometry. Anal. Chem. 69:4197-202
    • (1997) Anal. Chem , vol.69 , pp. 4197-4202
    • Ross, P.L.1    Lee, K.2    Belgrader, P.3
  • 67
    • 0037799501 scopus 로고    scopus 로고
    • Multiplexed SNP genotyping using the Qbead system: A quantum dot-encoded microsphere-based assay
    • Xu H, Sha MY, Wong EY, Uphoff J, Xu Y, et al. 2003. Multiplexed SNP genotyping using the Qbead system: a quantum dot-encoded microsphere-based assay. Nucleic Acids Res. 31:e43
    • (2003) Nucleic Acids Res , vol.31
    • Xu, H.1    Sha, M.Y.2    Wong, E.Y.3    Uphoff, J.4    Xu, Y.5
  • 68
    • 0032903821 scopus 로고    scopus 로고
    • Dynamic allele-specific hybridization. Anew method for scoring single nucleotide polymorphisms
    • Howell WM, Jobs M, Gyllensten U, Brookes AJ. 1999. Dynamic allele-specific hybridization. Anew method for scoring single nucleotide polymorphisms. Nat. Biotechnol. 17:87-88
    • (1999) Nat. Biotechnol , vol.17 , pp. 87-88
    • Howell, W.M.1    Jobs, M.2    Gyllensten, U.3    Brookes, A.J.4
  • 69
    • 33645660631 scopus 로고    scopus 로고
    • Rapid melting curve analysis on monolayered beads for high-throughput genotyping of single-nucleotide polymorphisms
    • Russom A, Haasl S, Brookes AJ, Andersson H, Stemme G. 2006. Rapid melting curve analysis on monolayered beads for high-throughput genotyping of single-nucleotide polymorphisms. Anal. Chem. 78:2220-25
    • (2006) Anal. Chem , vol.78 , pp. 2220-2225
    • Russom, A.1    Haasl, S.2    Brookes, A.J.3    Andersson, H.4    Stemme, G.5
  • 70
    • 0024297824 scopus 로고
    • A ligase-mediated gene detection technique
    • Landegren U, Kaiser R, Sanders J, Hood L. 1988. A ligase-mediated gene detection technique. Science 241:1077-80
    • (1988) Science , vol.241 , pp. 1077-1080
    • Landegren, U.1    Kaiser, R.2    Sanders, J.3    Hood, L.4
  • 71
    • 0034899541 scopus 로고    scopus 로고
    • Combinatorial fluorescence energy transfer tags for multiplex biological assays
    • Tong AK, Li Z, Jones GS, Russo JJ, Ju J. 2001. Combinatorial fluorescence energy transfer tags for multiplex biological assays. Nat. Biotechnol. 19:756-59
    • (2001) Nat. Biotechnol , vol.19 , pp. 756-759
    • Tong, A.K.1    Li, Z.2    Jones, G.S.3    Russo, J.J.4    Ju, J.5
  • 73
    • 0031831323 scopus 로고    scopus 로고
    • Mutation detection and single molecule counting using isothermal rolling circle amplification
    • Lizardi PM, Huang X, Zhu Z, Bray-Ward P, Thomas DC, Ward DC. 1998. Mutation detection and single molecule counting using isothermal rolling circle amplification. Nat. Genet. 19:225-32
    • (1998) Nat. Genet , vol.19 , pp. 225-232
    • Lizardi, P.M.1    Huang, X.2    Zhu, Z.3    Bray-Ward, P.4    Thomas, D.C.5    Ward, D.C.6
  • 75
    • 20044386880 scopus 로고    scopus 로고
    • Highly multiplexed molecular inversion probe genotyping: Over 10,000 targeted SNPs genotyped in a single tube assay
    • Hardenbol P, Yu F, Belmont J, Mackenzie J, Bruckner C, et al. 2005. Highly multiplexed molecular inversion probe genotyping: over 10,000 targeted SNPs genotyped in a single tube assay. Genome Res. 15:269-75
    • (2005) Genome Res , vol.15 , pp. 269-275
    • Hardenbol, P.1    Yu, F.2    Belmont, J.3    Mackenzie, J.4    Bruckner, C.5
  • 76
    • 0019302053 scopus 로고
    • Construction of a genetic linkage map in man using restriction length polymorphisms
    • Botstein D, White RL, Skolnick M, Davis RW. 1980. Construction of a genetic linkage map in man using restriction length polymorphisms. Am. J. Hum. Genet. 32:314-31
    • (1980) Am. J. Hum. Genet , vol.32 , pp. 314-331
    • Botstein, D.1    White, R.L.2    Skolnick, M.3    Davis, R.W.4
  • 77
    • 0032998425 scopus 로고    scopus 로고
    • Polymorphism identification and quantitative detection of genomic DNA by invasive cleavage of oligonucleotide probes
    • Lyamichev V, Mast AL, Hall JG, Prudent JR, Kaiser MW, et al. 1999. Polymorphism identification and quantitative detection of genomic DNA by invasive cleavage of oligonucleotide probes. Nat. Biotechnol. 17:292-96
    • (1999) Nat. Biotechnol , vol.17 , pp. 292-296
    • Lyamichev, V.1    Mast, A.L.2    Hall, J.G.3    Prudent, J.R.4    Kaiser, M.W.5
  • 78
    • 12944270589 scopus 로고    scopus 로고
    • Sensitive detection of DNA polymorphisms by the serial invasive signal amplification reaction
    • Hall JG, Eis SM, Law LP, Reynaldo JR, Prudent JR, et al. 2000. Sensitive detection of DNA polymorphisms by the serial invasive signal amplification reaction. Proc. Natl. Acad. Sci. USA 97:8272-77
    • (2000) Proc. Natl. Acad. Sci. USA , vol.97 , pp. 8272-8277
    • Hall, J.G.1    Eis, S.M.2    Law, L.P.3    Reynaldo, J.R.4    Prudent, J.R.5
  • 79
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita M, Suzuki Y, Sekiya T, Hayashi K. 1989. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5:874-79
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Hayashi, K.4
  • 80
    • 0036637688 scopus 로고    scopus 로고
    • A single-strand conformation polymorphism method for the large-scale analysis of mutations/polymorphisms using capillary array electrophoresis
    • Kukita Y, Higasa K, Baba S, Nakamura M, Manago S, et al. 2002. A single-strand conformation polymorphism method for the large-scale analysis of mutations/polymorphisms using capillary array electrophoresis. Electrophoresis 23:2259-66
    • (2002) Electrophoresis , vol.23 , pp. 2259-2266
    • Kukita, Y.1    Higasa, K.2    Baba, S.3    Nakamura, M.4    Manago, S.5
  • 81
    • 0035423317 scopus 로고    scopus 로고
    • Mismatch repair detection (MRD): High-throughput scanning for DNA variations
    • Faham M, Baharloo S, Tomitaka S, DeYoung J, Freimer NB. 2001. Mismatch repair detection (MRD): high-throughput scanning for DNA variations. Hum. Mol. Genet. 10:1657-64
    • (2001) Hum. Mol. Genet , vol.10 , pp. 1657-1664
    • Faham, M.1    Baharloo, S.2    Tomitaka, S.3    DeYoung, J.4    Freimer, N.B.5
  • 82
    • 0034669274 scopus 로고    scopus 로고
    • High-density fiber-optic DNA random microsphere array
    • Ferguson JA, Steemers FJ, Walt DR. 2000. High-density fiber-optic DNA random microsphere array. Anal. Chem. 72:5618-24
    • (2000) Anal. Chem , vol.72 , pp. 5618-5624
    • Ferguson, J.A.1    Steemers, F.J.2    Walt, D.R.3
  • 83
    • 0036275126 scopus 로고    scopus 로고
    • BeadArray technology: Enabling an accurate, cost-effective approach to high-throughput genotyping
    • Oliphant A, Barker DL, Stuelpnagel JR, Chee MS. 2002. BeadArray technology: enabling an accurate, cost-effective approach to high-throughput genotyping. Biotechniques Suppl:56-8, 60-61
    • (2002) Biotechniques , Issue.SUPPL.
    • Oliphant, A.1    Barker, D.L.2    Stuelpnagel, J.R.3    Chee, M.S.4
  • 84
    • 20244367169 scopus 로고    scopus 로고
    • High-throughput SNP genotyping on universal bead arrays
    • Shen R, Fan JB, Campbell D, Chang W, Chen J, et al. 2005. High-throughput SNP genotyping on universal bead arrays. Mutat. Res. 573:70-82
    • (2005) Mutat. Res , vol.573 , pp. 70-82
    • Shen, R.1    Fan, J.B.2    Campbell, D.3    Chang, W.4    Chen, J.5
  • 85
    • 33645741145 scopus 로고    scopus 로고
    • The SNPlex genotyping system: A flexible and scalable platform for SNP genotyping
    • Tobler AR, Short S, Andersen MR, Paner TM, Briggs JC, et al. 2005. The SNPlex genotyping system: a flexible and scalable platform for SNP genotyping. J. Biomol. Tech. 16:398-406
    • (2005) J. Biomol. Tech , vol.16 , pp. 398-406
    • Tobler, A.R.1    Short, S.2    Andersen, M.R.3    Paner, T.M.4    Briggs, J.C.5
  • 86
    • 0024289037 scopus 로고
    • Laser desorption ionization of proteins with molecular masses exceeding 10,000 daltons
    • Karas M, Hillenkamp F. 1988. Laser desorption ionization of proteins with molecular masses exceeding 10,000 daltons. Anal. Chem. 60:2299-301
    • (1988) Anal. Chem , vol.60 , pp. 2299-2301
    • Karas, M.1    Hillenkamp, F.2
  • 87
    • 84984042980 scopus 로고
    • Protein and polymer analyses up to m/z 100,000 by laser ionization time-of-flight mass spectrometry
    • Tanaka K, Waki H, Ido Y, Akita S, Yoshida Y, Yoshida T. 1988. Protein and polymer analyses up to m/z 100,000 by laser ionization time-of-flight mass spectrometry. Rapid Commun. Mass Spectrom. 2:151-53
    • (1988) Rapid Commun. Mass Spectrom , vol.2 , pp. 151-153
    • Tanaka, K.1    Waki, H.2    Ido, Y.3    Akita, S.4    Yoshida, Y.5    Yoshida, T.6
  • 88
    • 0038243876 scopus 로고    scopus 로고
    • Genotyping single nucleotide polymorphisms by mass spectrometry
    • Tost J, Gut IG. 2002. Genotyping single nucleotide polymorphisms by mass spectrometry. Mass Spectrom. Rev. 21:388-418
    • (2002) Mass Spectrom. Rev , vol.21 , pp. 388-418
    • Tost, J.1    Gut, I.G.2
  • 91
    • 0033058730 scopus 로고    scopus 로고
    • Fluorescence polarization in homogeneous nucleic acid analysis
    • Chen X, Levine L, Kwok PY. 1999. Fluorescence polarization in homogeneous nucleic acid analysis. Genome Res. 9:492-98
    • (1999) Genome Res , vol.9 , pp. 492-498
    • Chen, X.1    Levine, L.2    Kwok, P.Y.3
  • 92
    • 0036193376 scopus 로고    scopus 로고
    • SNP genotyping with fluorescence polarization detection
    • Kwok PY. 2002. SNP genotyping with fluorescence polarization detection. Hum. Mutat. 19:315-23
    • (2002) Hum. Mutat , vol.19 , pp. 315-323
    • Kwok, P.Y.1
  • 93
    • 0031983834 scopus 로고    scopus 로고
    • Multicolor molecular beacons for allele discrimination
    • Tyagi S, Bratu DP, Kramer FR. 1998. Multicolor molecular beacons for allele discrimination. Nat. Biotechnol. 16:49-53
    • (1998) Nat. Biotechnol , vol.16 , pp. 49-53
    • Tyagi, S.1    Bratu, D.P.2    Kramer, F.R.3
  • 94
    • 0035154453 scopus 로고    scopus 로고
    • High-throughput SNP genotyping by allele-spedfic PCR with universal energy-transfer-labeled primers
    • Myakishev MV, Khripin Y, Hu S, Hamer DH. 2001. High-throughput SNP genotyping by allele-spedfic PCR with universal energy-transfer-labeled primers. Genome Res. 11:163-69
    • (2001) Genome Res , vol.11 , pp. 163-169
    • Myakishev, M.V.1    Khripin, Y.2    Hu, S.3    Hamer, D.H.4
  • 95
    • 0030754954 scopus 로고    scopus 로고
    • Template-directed dye-terminator incorporation (TDI) assay: A homogeneous DNA diagnostic method based on fluorescence resonance energy transfer
    • Chen X, Kwok PY. 1997. Template-directed dye-terminator incorporation (TDI) assay: a homogeneous DNA diagnostic method based on fluorescence resonance energy transfer. Nucleic Acids Res. 25:347-53
    • (1997) Nucleic Acids Res , vol.25 , pp. 347-353
    • Chen, X.1    Kwok, P.Y.2
  • 96
    • 0000520709 scopus 로고
    • Comparative DNA sequencing by denaturing high-performance liquid chromatography (DHPLC)
    • Oefner PJ, Underhill PA. 1995. Comparative DNA sequencing by denaturing high-performance liquid chromatography (DHPLC). Am. J. Hum. Genet. 57:A266
    • (1995) Am. J. Hum. Genet , vol.57
    • Oefner, P.J.1    Underhill, P.A.2
  • 97
    • 0033016069 scopus 로고    scopus 로고
    • Genotyping single nucleotide polymorphisms by primer extension and high performance liquid chromatography
    • Hoogendoorn B, Owen MJ, Oefner PJ, Williams N, Austin J, O'Donovan MC. 1999. Genotyping single nucleotide polymorphisms by primer extension and high performance liquid chromatography. Hum. Genet. 104:89-93
    • (1999) Hum. Genet , vol.104 , pp. 89-93
    • Hoogendoorn, B.1    Owen, M.J.2    Oefner, P.J.3    Williams, N.4    Austin, J.5    O'Donovan, M.C.6
  • 98
    • 0036270747 scopus 로고    scopus 로고
    • Multiplex analysis of single-nucleotide extension products on a 16-capillary, denaturing, high-performance liquid chromatography array
    • Premstaller A, Oberacher H, Rickert A, Huber CG, Oefner PJ. 2002. Multiplex analysis of single-nucleotide extension products on a 16-capillary, denaturing, high-performance liquid chromatography array. Genomics 79:793-98
    • (2002) Genomics , vol.79 , pp. 793-798
    • Premstaller, A.1    Oberacher, H.2    Rickert, A.3    Huber, C.G.4    Oefner, P.J.5
  • 100
    • 17044388155 scopus 로고    scopus 로고
    • Genetic variation analyses by pyrosequencing
    • Langaee T, Ronaghi M. 2005. Genetic variation analyses by pyrosequencing. Mutat. Res. 573:96-102
    • (2005) Mutat. Res , vol.573 , pp. 96-102
    • Langaee, T.1    Ronaghi, M.2
  • 101
    • 28144444187 scopus 로고    scopus 로고
    • Genomewide high-density SNP linkage analysis of 236 Japanese families supports the existence of schizophrenia susceptibility loci on chromosomes 1p, 14q, and 20p
    • Arinami T, Ohtsuki T, Ishiguro H, Ujike H, Tanaka Y, et al. 2005. Genomewide high-density SNP linkage analysis of 236 Japanese families supports the existence of schizophrenia susceptibility loci on chromosomes 1p, 14q, and 20p. Am. J. Hum. Genet. 77:937-44
    • (2005) Am. J. Hum. Genet , vol.77 , pp. 937-944
    • Arinami, T.1    Ohtsuki, T.2    Ishiguro, H.3    Ujike, H.4    Tanaka, Y.5
  • 102
    • 32444438910 scopus 로고    scopus 로고
    • Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes
    • Ribas G, González-Neira A, Salas A, Milne RL, Vega A, et al. 2006. Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes. Hum. Genet. 118:669-79
    • (2006) Hum. Genet , vol.118 , pp. 669-679
    • Ribas, G.1    González-Neira, A.2    Salas, A.3    Milne, R.L.4    Vega, A.5
  • 103
    • 33646562887 scopus 로고    scopus 로고
    • Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)
    • Chiang AP, Beck JS, Yen HJ, Tayeh MK, Scheetz TE, et al. 2006. Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proc. Natl. Acad. Sci. USA 103:6287-92
    • (2006) Proc. Natl. Acad. Sci. USA , vol.103 , pp. 6287-6292
    • Chiang, A.P.1    Beck, J.S.2    Yen, H.J.3    Tayeh, M.K.4    Scheetz, T.E.5
  • 104
    • 13944270307 scopus 로고    scopus 로고
    • Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2
    • Metherell LA, Chapple JP, Cooray S, David A, Becker C, et al. 2005. Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat. Genet. 37:166-70
    • (2005) Nat. Genet , vol.37 , pp. 166-170
    • Metherell, L.A.1    Chapple, J.P.2    Cooray, S.3    David, A.4    Becker, C.5
  • 106
    • 32444449863 scopus 로고    scopus 로고
    • Association between a variation in LRCH1 and knee osteoarthritis: A genome-wide single-nucleotide polymorphism association study using DNA pooling
    • Spector TD, Reneland RH, Mah S, Valdes AM, Hart DJ, et al. 2006. Association between a variation in LRCH1 and knee osteoarthritis: a genome-wide single-nucleotide polymorphism association study using DNA pooling. Arthritis Rheum. 54:524-32
    • (2006) Arthritis Rheum , vol.54 , pp. 524-532
    • Spector, T.D.1    Reneland, R.H.2    Mah, S.3    Valdes, A.M.4    Hart, D.J.5
  • 107
    • 33744760248 scopus 로고    scopus 로고
    • Haplotypes within genes of beta-chemokines in 17q11 are associated with multiple sclerosis: A second phase study
    • Vyshkina T, Kalman B. 2005. Haplotypes within genes of beta-chemokines in 17q11 are associated with multiple sclerosis: a second phase study. Hum. Genet. 118:67-75
    • (2005) Hum. Genet , vol.118 , pp. 67-75
    • Vyshkina, T.1    Kalman, B.2
  • 108
    • 33344457837 scopus 로고    scopus 로고
    • Association between the 5HT1B receptor gene (HTR1B) and the inattentive subtype of ADHD
    • Smoller JW, Biederman J, Arbeitman L, Doyle AE, Fagerness J, et al. 2006. Association between the 5HT1B receptor gene (HTR1B) and the inattentive subtype of ADHD. Biol. Psychiatry 59:460-67
    • (2006) Biol. Psychiatry , vol.59 , pp. 460-467
    • Smoller, J.W.1    Biederman, J.2    Arbeitman, L.3    Doyle, A.E.4    Fagerness, J.5
  • 109
    • 33745282142 scopus 로고    scopus 로고
    • Alzheimer's disease
    • Dynamin-binding protein gene on chromosome 10q is associated with late-onset
    • Kuwano R, Miyashita A, Arai H, Asada T, Imagawa M, et al. 2006. Dynamin-binding protein gene on chromosome 10q is associated with late-onset Alzheimer's disease. Hum. Mol. Genet. 15:2170-82
    • (2006) Hum. Mol. Genet , vol.15 , pp. 2170-2182
    • Kuwano, R.1    Miyashita, A.2    Arai, H.3    Asada, T.4    Imagawa, M.5
  • 110
    • 33645053497 scopus 로고    scopus 로고
    • Refinement of the 22q12-q13 breast cancer-associated region: Evidence of TM-PRSS6 as a candidate gene in an eastern Finnish population
    • Hartikainen JM, Tuhkanen H, Kataja V, Eskelinen M, Uusitupa M, et al. 2006. Refinement of the 22q12-q13 breast cancer-associated region: evidence of TM-PRSS6 as a candidate gene in an eastern Finnish population. Clin. Cancer Res. 12:1454-62
    • (2006) Clin. Cancer Res , vol.12 , pp. 1454-1462
    • Hartikainen, J.M.1    Tuhkanen, H.2    Kataja, V.3    Eskelinen, M.4    Uusitupa, M.5
  • 111
    • 20344371203 scopus 로고    scopus 로고
    • Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease
    • Noureddine MA, Qin XJ, Oliveira SA, Skelly TJ, van der Walt J, et al. 2005. Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease. Hum. Genet. 117:27-33
    • (2005) Hum. Genet , vol.117 , pp. 27-33
    • Noureddine, M.A.1    Qin, X.J.2    Oliveira, S.A.3    Skelly, T.J.4    van der Walt, J.5
  • 112
  • 113
    • 33646516191 scopus 로고    scopus 로고
    • Association of SULT1A1 and UGT1A1 polymorphisms with breast cancer risk and phenotypes in Russian women
    • Shatalova E, Loginov V, Braga E, Kazubskaja T, Sudomoina M, et al. 2006. Association of SULT1A1 and UGT1A1 polymorphisms with breast cancer risk and phenotypes in Russian women. Mol. Biol. 40:228-34
    • (2006) Mol. Biol , vol.40 , pp. 228-234
    • Shatalova, E.1    Loginov, V.2    Braga, E.3    Kazubskaja, T.4    Sudomoina, M.5
  • 114
    • 33745612767 scopus 로고    scopus 로고
    • Influence of the MDM2 single nucleotide polymorphism SNP309 on tumor development in BRCA1 mutation carriers
    • Copson ER, White HE, Blaydes JP, Robinson DO, Johnson PW, Eccles DM. 2006. Influence of the MDM2 single nucleotide polymorphism SNP309 on tumor development in BRCA1 mutation carriers. BMC Cancer 6:80
    • (2006) BMC Cancer , vol.6 , pp. 80
    • Copson, E.R.1    White, H.E.2    Blaydes, J.P.3    Robinson, D.O.4    Johnson, P.W.5    Eccles, D.M.6
  • 115
    • 0037648405 scopus 로고    scopus 로고
    • Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease
    • Ueda H, Howson JM, Esposito L, Heward J, Snook H, et al. 2003. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 423:506-11
    • (2003) Nature , vol.423 , pp. 506-511
    • Ueda, H.1    Howson, J.M.2    Esposito, L.3    Heward, J.4    Snook, H.5
  • 117
    • 0033624575 scopus 로고    scopus 로고
    • The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes
    • Altshuler D, Hirschhorn JN, Klannemark M, Lindgren CM, Vohl MC, et al. 2000. The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat. Genet. 26:76-80
    • (2000) Nat. Genet , vol.26 , pp. 76-80
    • Altshuler, D.1    Hirschhorn, J.N.2    Klannemark, M.3    Lindgren, C.M.4    Vohl, M.C.5
  • 118
    • 33646489451 scopus 로고    scopus 로고
    • Association of the IL4R single-nucleotide polymorphism I50V with rapidly erosive rheumatoid arthritis
    • Prots I, Skapenko A, Wendler J, Mattyasovszky S, Yoné CL, et al. 2006. Association of the IL4R single-nucleotide polymorphism I50V with rapidly erosive rheumatoid arthritis. Arthritis Rheum. 54:1491-500
    • (2006) Arthritis Rheum , vol.54 , pp. 1491-1500
    • Prots, I.1    Skapenko, A.2    Wendler, J.3    Mattyasovszky, S.4    Yoné, C.L.5
  • 119
    • 33745047597 scopus 로고    scopus 로고
    • Analysis of single nucleotide polymorphisms in genes in the chromosome 12Q24.31 region points to P2RX7 as a susceptibility gene to bipolar affective disorder
    • Barden N, Harvey M, Gagné B, Shink E, Tremblay M, et al. 2006. Analysis of single nucleotide polymorphisms in genes in the chromosome 12Q24.31 region points to P2RX7 as a susceptibility gene to bipolar affective disorder. Am. J. Med. Genet. B Neuropsychiatr. Genet. 141:374-82
    • (2006) Am. J. Med. Genet. B Neuropsychiatr. Genet , vol.141 , pp. 374-382
    • Barden, N.1    Harvey, M.2    Gagné, B.3    Shink, E.4    Tremblay, M.5
  • 120
    • 28144461394 scopus 로고    scopus 로고
    • Association of CYP2C8, CYP3A4, CYP3A5, and ABCB1 polymorphisms with the pharmacokinetics of paclitaxel
    • Henningsson A, Marsh S, Loos WJ, Karlsson MO, Garsa A, et al. 2005. Association of CYP2C8, CYP3A4, CYP3A5, and ABCB1 polymorphisms with the pharmacokinetics of paclitaxel. Clin. Cancer Res. 11:8097-104
    • (2005) Clin. Cancer Res , vol.11 , pp. 8097-8104
    • Henningsson, A.1    Marsh, S.2    Loos, W.J.3    Karlsson, M.O.4    Garsa, A.5
  • 121
    • 33745020069 scopus 로고    scopus 로고
    • Disposition of 9-nitrocamptothecin and its 9-aminocamptothecin metabolite in relation to ABC transporter genotypes
    • Zamboni W, Ramanathan R, McLeod H, Mani S, Potter D, et al. 2006. Disposition of 9-nitrocamptothecin and its 9-aminocamptothecin metabolite in relation to ABC transporter genotypes. Invest. New Drugs 24:393-401
    • (2006) Invest. New Drugs , vol.24 , pp. 393-401
    • Zamboni, W.1    Ramanathan, R.2    McLeod, H.3    Mani, S.4    Potter, D.5
  • 122
    • 0037012465 scopus 로고    scopus 로고
    • Association between CYP2C9 genetic variants and anticoagulation- related outcomes during warfarin therapy
    • Higashi MK, Veenstra DL, Kondo LM, Wittkowsky AK, Srinouanprachanh SL, et al. 2002. Association between CYP2C9 genetic variants and anticoagulation- related outcomes during warfarin therapy. JAMA 287:1690-98
    • (2002) JAMA , vol.287 , pp. 1690-1698
    • Higashi, M.K.1    Veenstra, D.L.2    Kondo, L.M.3    Wittkowsky, A.K.4    Srinouanprachanh, S.L.5
  • 123
    • 33645232692 scopus 로고    scopus 로고
    • Association of VKORC1 and CYP2C9 polymorphisms with warfarin dose requirements in Japanese patients
    • Mushiroda T, Ohnishi Y, Saito S, Takahashi A, Kikuchi Y, et al. 2006. Association of VKORC1 and CYP2C9 polymorphisms with warfarin dose requirements in Japanese patients. J. Hum. Genet. 51:249-53
    • (2006) J. Hum. Genet , vol.51 , pp. 249-253
    • Mushiroda, T.1    Ohnishi, Y.2    Saito, S.3    Takahashi, A.4    Kikuchi, Y.5
  • 124
    • 0035836342 scopus 로고    scopus 로고
    • TNFalpha promoter region gene polymorphisms in carbamazepine-hypersensitive patients
    • Pirmohamed M, Lin K, Chadwick D, Park BK. 2001. TNFalpha promoter region gene polymorphisms in carbamazepine-hypersensitive patients. Neurology 56:890-96
    • (2001) Neurology , vol.56 , pp. 890-896
    • Pirmohamed, M.1    Lin, K.2    Chadwick, D.3    Park, B.K.4
  • 125
    • 0345628578 scopus 로고    scopus 로고
    • The arylamine N-acetyltransferase (NAT2) polymorphism and the risk of adverse reactions to cotrimoxazole in children
    • Zielinska E, Niewiarowski W, Bodalski J. 1998. The arylamine N-acetyltransferase (NAT2) polymorphism and the risk of adverse reactions to cotrimoxazole in children. Eur. J. Clin. Pharmacol. 54:779-85
    • (1998) Eur. J. Clin. Pharmacol , vol.54 , pp. 779-785
    • Zielinska, E.1    Niewiarowski, W.2    Bodalski, J.3
  • 127
    • 2342462398 scopus 로고    scopus 로고
    • Single-molecule analysis for molecular haplotyping
    • Kwok PY, Xiao M. 2004. Single-molecule analysis for molecular haplotyping. Hum. Mutat. 23:442-46
    • (2004) Hum. Mutat , vol.23 , pp. 442-446
    • Kwok, P.Y.1    Xiao, M.2
  • 128
    • 0034177819 scopus 로고    scopus 로고
    • Nanopores and nucleic acids: Prospects for ultrarapid sequencing
    • Deamer DW, Akeson M. 2000. Nanopores and nucleic acids: prospects for ultrarapid sequencing. Trends Biotechnol. 18:147-51
    • (2000) Trends Biotechnol , vol.18 , pp. 147-151
    • Deamer, D.W.1    Akeson, M.2
  • 131
    • 2342635193 scopus 로고    scopus 로고
    • Genomewide linkage analysis of bioplar disorder by use of a high density single-nucleotide-polymorphism (SNP) genotyping assay: A comparison with microsatellite marker assays and finding of significant linkage to chromosome 6q22
    • Middleton FA, Pato MT, Gentile KL, Morley CP, Zhao X, et al. 2004. Genomewide linkage analysis of bioplar disorder by use of a high density single-nucleotide-polymorphism (SNP) genotyping assay: a comparison with microsatellite marker assays and finding of significant linkage to chromosome 6q22. Am. J. Hum. Genet. 74:886-97
    • (2004) Am. J. Hum. Genet , vol.74 , pp. 886-897
    • Middleton, F.A.1    Pato, M.T.2    Gentile, K.L.3    Morley, C.P.4    Zhao, X.5
  • 132
    • 0033863391 scopus 로고    scopus 로고
    • SNPing away at complex diseases: Analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease
    • Martin ER, Lai EH, Gilbert JR, Rogala AR, Afshari AJ, et al. 2000. SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease. Am. J. Hum. Genet. 67:383-94
    • (2000) Am. J. Hum. Genet , vol.67 , pp. 383-394
    • Martin, E.R.1    Lai, E.H.2    Gilbert, J.R.3    Rogala, A.R.4    Afshari, A.J.5
  • 133
    • 0033569785 scopus 로고    scopus 로고
    • Alzheimers disease is not associated with the hypertension genetic risk factors PLA(2) or G protein beta3, either independently or interactively with apolipoprotein E
    • Town T, Paris D, Parker TA, Kundtz A, Tan J, et al. 1999. Alzheimers disease is not associated with the hypertension genetic risk factors PLA(2) or G protein beta3, either independently or interactively with apolipoprotein E. Am. J. Med. Genet. 88:465-68
    • (1999) Am. J. Med. Genet , vol.88 , pp. 465-468
    • Town, T.1    Paris, D.2    Parker, T.A.3    Kundtz, A.4    Tan, J.5
  • 134
    • 26244448474 scopus 로고    scopus 로고
    • Large-scale studies of the association between variation at the TNF/LTA locus and susceptibility to type 2 diabetes
    • Zeggini E, Groves CJ, Parkinson JR, Halford S, Owen KR, et al. 2005. Large-scale studies of the association between variation at the TNF/LTA locus and susceptibility to type 2 diabetes. Diabetologia 48:2013-17
    • (2005) Diabetologia , vol.48 , pp. 2013-2017
    • Zeggini, E.1    Groves, C.J.2    Parkinson, J.R.3    Halford, S.4    Owen, K.R.5
  • 135
    • 30744464600 scopus 로고    scopus 로고
    • Comprehensive genetic evaluation of common E-cadherin sequence variants and prostate cancer risk: Strong confirmation of functional promoter SNP
    • Lindström S, Wiklund F, Jonsson BA, Adami HO, Bälter K, et al. 2005. Comprehensive genetic evaluation of common E-cadherin sequence variants and prostate cancer risk: strong confirmation of functional promoter SNP. Hum. Genet. 118:339-47
    • (2005) Hum. Genet , vol.118 , pp. 339-347
    • Lindström, S.1    Wiklund, F.2    Jonsson, B.A.3    Adami, H.O.4    Bälter, K.5
  • 136
    • 0031595923 scopus 로고    scopus 로고
    • A Pro12Ala substitution in PPARgamma2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity
    • Deeb SS, Fajas L, Nemoto M, Pihlajamäki J, Mykkänen L, et al. 1998. A Pro12Ala substitution in PPARgamma2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity. Nat. Genet. 20:284-87
    • (1998) Nat. Genet , vol.20 , pp. 284-287
    • Deeb, S.S.1    Fajas, L.2    Nemoto, M.3    Pihlajamäki, J.4    Mykkänen, L.5


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