메뉴 건너뛰기




Volumn 5, Issue 2, 2003, Pages 43-60

Detection of single nucleotide polymorphisms

Author keywords

[No Author keywords available]

Indexed keywords

DEOXYRIBONUCLEASE; DNA; HETERODUPLEX; RIBONUCLEASE; RNA; URACIL DNA GLYCOSYLTRANSFERASE;

EID: 0038313211     PISSN: 14673037     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (194)

References (116)
  • 3
    • 0033642739 scopus 로고    scopus 로고
    • The use of resolvases T4 endonuclease VII and T7 endonuclease I in mutation detection
    • Babon, J.J., McKenzie, M., and Cotton, R.G. 2000. The use of resolvases T4 endonuclease VII and T7 endonuclease I in mutation detection. Methods Mol. Biol. 152: 187-199.
    • (2000) Methods Mol. Biol. , vol.152 , pp. 187-199
    • Babon, J.J.1    McKenzie, M.2    Cotton, R.G.3
  • 4
    • 0032533431 scopus 로고    scopus 로고
    • Signal amplification of padlock probes by rolling circle replication
    • Baner, J., Nilsson, M., Mendel-Hartvig, M., and Landegren, U. 1998. Signal amplification of padlock probes by rolling circle replication. Nucleic Acids Res. 26: 5073-5078.
    • (1998) Nucleic Acids Res. , vol.26 , pp. 5073-5078
    • Baner, J.1    Nilsson, M.2    Mendel-Hartvig, M.3    Landegren, U.4
  • 5
    • 0026056970 scopus 로고
    • Genetic disease detection and DNA amplification using cloned thermostable ligase
    • Barany, F. 1991. Genetic disease detection and DNA amplification using cloned thermostable ligase. Proc. Natl. Acad. Sci. USA. 88:189-193.
    • (1991) Proc. Natl. Acad. Sci. USA , vol.88 , pp. 189-193
    • Barany, F.1
  • 6
    • 0032860213 scopus 로고    scopus 로고
    • Analysis of negatively 'charge tagged' DNA by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry
    • Berlin, K. and Gut, I.G. 1999. Analysis of negatively 'charge tagged' DNA by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Rapid Commun Mass Spectrom. 13: 1739-1743.
    • (1999) Rapid Commun. Mass Spectrom. , vol.13 , pp. 1739-1743
    • Berlin, K.1    Gut, I.G.2
  • 7
    • 0037317459 scopus 로고    scopus 로고
    • Polymorphism ratio sequencing: A new approach for single nucleotide polymorphism discovery and genotyping
    • Blazej, R.G., Paegel, B.M., and Mathies, R.A. 2003. Polymorphism ratio sequencing: a new approach for single nucleotide polymorphism discovery and genotyping. Genome Res. 13:287-93.
    • (2003) Genome Res. , vol.13 , pp. 287-293
    • Blazej, R.G.1    Paegel, B.M.2    Mathies, R.A.3
  • 8
    • 0019302053 scopus 로고
    • Construction of a genetic linkage map in man using restriction fragment length polymorphisms
    • Botstein, D., White, R.L., Skolnick, M., and Davis, R.W. 1980. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am. J. Hum. Genet. 32: 314-331.
    • (1980) Am. J. Hum. Genet. , vol.32 , pp. 314-331
    • Botstein, D.1    White, R.L.2    Skolnick, M.3    Davis, R.W.4
  • 10
    • 0035895258 scopus 로고    scopus 로고
    • High-throughput development and characterization of a genomewide collection of gene-based single nucleotide polymorphism markers by chip-based matrix-assisted laser desorption/ionization time-of-flight mass spectrometry
    • Buetow, K.H., Edmonson, M., MacDonald, R., Clifford, R., Yip, P., Kelley, J., Little, D.P., Strausberg, R., Koester, H., Cantor, C.R., and Braun, A. 2001. High-throughput development and characterization of a genomewide collection of gene-based single nucleotide polymorphism markers by chip-based matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Proc. Natl. Acad. Sci. USA. 98: 581-584.
    • (2001) Proc. Natl. Acad. Sci. USA , vol.98 , pp. 581-584
    • Buetow, K.H.1    Edmonson, M.2    MacDonald, R.3    Clifford, R.4    Yip, P.5    Kelley, J.6    Little, D.P.7    Strausberg, R.8    Koester, H.9    Cantor, C.R.10    Braun, A.11
  • 13
    • 0030754954 scopus 로고    scopus 로고
    • Template-directed dye-terminator incorporation (TDI) assay: A homogeneous DNA diagnostic method based on fluorescence energy transfer
    • Chen, X. and Kwok, P.-Y. 1997. Template-directed dye-terminator incorporation (TDI) assay: a homogeneous DNA diagnostic method based on fluorescence energy transfer. Nucleic Acids Res. 25: 347-353.
    • (1997) Nucleic Acids Res. , vol.25 , pp. 347-353
    • Chen, X.1    Kwok, P.-Y.2
  • 14
    • 0030885877 scopus 로고    scopus 로고
    • Fluorescence energy transfer detection as a homogeneous DNA diagnostic method
    • Chen,X., Zehnbauer, B., Gnirke, A., and Kwok, P.-Y. 1997. Fluorescence energy transfer detection as a homogeneous DNA diagnostic method. Proc. Natl. Acad. Sci. USA. 94: 10756-10761.
    • (1997) Proc. Natl. Acad. Sci. USA , vol.94 , pp. 10756-10761
    • Chen, X.1    Zehnbauer, B.2    Gnirke, A.3    Kwok, P.-Y.4
  • 15
    • 0031804089 scopus 로고    scopus 로고
    • A homogeneous, ligase-mediated DNA diagnostic test
    • Chen, X., Livak, K., and Kwok, P.-Y. 1998. A homogeneous, ligase-mediated DNA diagnostic test. Genome Res. 8: 549-556.
    • (1998) Genome Res. , vol.8 , pp. 549-556
    • Chen, X.1    Livak, K.2    Kwok, P.-Y.3
  • 16
    • 0033058730 scopus 로고    scopus 로고
    • Fluorescence polarization in homogeneous nucleic acid analysis
    • Chen, X., Levine, L., and Kwok, P.-Y. 1999. Fluorescence polarization in homogeneous nucleic acid analysis. Genome Res. 9: 492-498.
    • (1999) Genome Res. , vol.9 , pp. 492-498
    • Chen, X.1    Levine, L.2    Kwok, P.-Y.3
  • 17
    • 0030688004 scopus 로고    scopus 로고
    • Variations on a theme: Cataloging human DNA sequence variation
    • Collins, F.S., Guyer, M.S., and Charkravarti, A. 1997. Variations on a theme: cataloging human DNA sequence variation. Science. 278:1580-1581.
    • (1997) Science , vol.278 , pp. 1580-1581
    • Collins, F.S.1    Guyer, M.S.2    Charkravarti, A.3
  • 18
    • 0021943341 scopus 로고
    • An estimate of unique DNA sequence heterozygosity in the human genome
    • Cooper, D.N., Smith, B.A., Cooke, H.J., Niemann, S., and Schmidtke, J. 1985. An estimate of unique DNA sequence heterozygosity in the human genome. Hum. Genet. 69: 201-205.
    • (1985) Hum. Genet. , vol.69 , pp. 201-205
    • Cooper, D.N.1    Smith, B.A.2    Cooke, H.J.3    Niemann, S.4    Schmidtke, J.5
  • 20
    • 0033046466 scopus 로고    scopus 로고
    • Mutation detection by chemical cleavage
    • Cotton, R.G. 1999. Mutation detection by chemical cleavage. Genet. Anal. 14: 165-168.
    • (1999) Genet. Anal. , vol.14 , pp. 165-168
    • Cotton, R.G.1
  • 21
    • 0024021305 scopus 로고
    • Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations
    • Cotton, R.G., Rodrigues, N.R., and Campbell, R.D. 1988. Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proc. Nat. Acad. Sci. U.S.A. 85: 4397-4401.
    • (1988) Proc. Nat. Acad. Sci. U.S.A. , vol.85 , pp. 4397-4401
    • Cotton, R.G.1    Rodrigues, N.R.2    Campbell, R.D.3
  • 23
    • 0033567660 scopus 로고    scopus 로고
    • Polymorphism analysis and gene detection by minisequencing on an array of gel-immobilized primers
    • Dubiley, S., Kirillov, E., and Mirzabekov, A. 1999. Polymorphism analysis and gene detection by minisequencing on an array of gel-immobilized primers. Nucleic Acids Res. 27: e19.
    • (1999) Nucleic Acids Res. , vol.27
    • Dubiley, S.1    Kirillov, E.2    Mirzabekov, A.3
  • 24
    • 0033036746 scopus 로고    scopus 로고
    • Detection of low-frequency mutations in exon 8 of the TP53 gene by constant denaturant capillary electrophoresis (CDCE)
    • Ekstrom, P.O., Borresen-Dale, A.L., Qvist, H., Giercksky, K.E., and Thilly, W.G. 1999. Detection of low-frequency mutations in exon 8 of the TP53 gene by constant denaturant capillary electrophoresis (CDCE). Biotechniques. 27: 128-134.
    • (1999) Biotechniques , vol.27 , pp. 128-134
    • Ekstrom, P.O.1    Borresen-Dale, A.L.2    Qvist, H.3    Giercksky, K.E.4    Thilly, W.G.5
  • 25
    • 0029565778 scopus 로고
    • A novel in vivo method to detect DNA sequence variation
    • Faham, M. and Cox, D.R. 1995. A novel in vivo method to detect DNA sequence variation. Genome Res. 5: 474-482.
    • (1995) Genome Res. , vol.5 , pp. 474-482
    • Faham, M.1    Cox, D.R.2
  • 27
    • 0001430252 scopus 로고
    • DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: Correspondence with melting theory
    • Fischer, S.G. and Lerman, L.S. 1983. DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory. Proc. Natl. Acad. Sci. USA. 80: 1579-1583.
    • (1983) Proc. Natl. Acad. Sci. USA , vol.80 , pp. 1579-1583
    • Fischer, S.G.1    Lerman, L.S.2
  • 29
    • 0034213596 scopus 로고    scopus 로고
    • High-throughput detection of unknown mutations by using multiplexed capillary electrophoresis with poly(vinylpyrrolidone) solution
    • Gao, Q. and Yeung, E.S. 2000. High-throughput detection of unknown mutations by using multiplexed capillary electrophoresis with poly(vinylpyrrolidone) solution. Anal. Chem. 72: 2499-2506.
    • (2000) Anal. Chem. , vol.72 , pp. 2499-2506
    • Gao, Q.1    Yeung, E.S.2
  • 30
    • 0029818082 scopus 로고    scopus 로고
    • Temperature-programmed capillary electrophoresis for detection of DNA point mutations
    • Gelfi, C., Cremonesi, L., Ferrari, M., and Righetti, P.G. 1996. Temperature-programmed capillary electrophoresis for detection of DNA point mutations. BioTechniques 21: 926-932.
    • (1996) BioTechniques , vol.21 , pp. 926-932
    • Gelfi, C.1    Cremonesi, L.2    Ferrari, M.3    Righetti, P.G.4
  • 31
    • 0033046861 scopus 로고    scopus 로고
    • Single-tube genotyping without oligonucleotide probes
    • Germer, S. and Higuchi, R. 1999. Single-tube genotyping without oligonucleotide probes. Genome Res. 9: 72-78.
    • (1999) Genome Res. , vol.9 , pp. 72-78
    • Germer, S.1    Higuchi, R.2
  • 32
    • 0033032090 scopus 로고    scopus 로고
    • Direct genetic analysis by matrix-assisted laser desorption/ionization mass spectrometry
    • Griffin, T.J., Hall, J.G., Prudent, J.R., and Smith, L.M. 1999. Direct genetic analysis by matrix-assisted laser desorption/ionization mass spectrometry. Proc. Natl. Acad. Sci. USA. 96: 6301-6306.
    • (1999) Proc. Natl. Acad. Sci. USA , vol.96 , pp. 6301-6306
    • Griffin, T.J.1    Hall, J.G.2    Prudent, J.R.3    Smith, L.M.4
  • 33
    • 0029829670 scopus 로고    scopus 로고
    • Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis
    • Hacia, J.G., Brody, L.C., Chee, M.S., Fodor, S.P.A., and Collins, F.S. 1996. Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis. Nature Genet. 14: 441-447.
    • (1996) Nature Genet. , vol.14 , pp. 441-447
    • Hacia, J.G.1    Brody, L.C.2    Chee, M.S.3    Fodor, S.P.A.4    Collins, F.S.5
  • 37
    • 0028172141 scopus 로고
    • Direct DNA sequencing of PCR-amplified vector inserts following enzymatic degradation of primer and dNTPs
    • Hanke, M. and Wink, M. 1994. Direct DNA sequencing of PCR-amplified vector inserts following enzymatic degradation of primer and dNTPs. BioTechniques 17: 858-860.
    • (1994) BioTechniques , vol.17 , pp. 858-860
    • Hanke, M.1    Wink, M.2
  • 38
    • 0028954786 scopus 로고
    • Robust nonradioactive oligonucleotide ligation assay to detect a common point mutation in the CYP2D6 gene causing abnormal drug metabolism
    • Hansen, T.S., Petersen, N.E., Iitia, A., Blaabjerg, O., Hyltoft-Petersen, P., and Horder, M. 1995. Robust nonradioactive oligonucleotide ligation assay to detect a common point mutation in the CYP2D6 gene causing abnormal drug metabolism. Clin. Chem. 41: 413-418.
    • (1995) Clin. Chem. , vol.41 , pp. 413-418
    • Hansen, T.S.1    Petersen, N.E.2    Iitia, A.3    Blaabjerg, O.4    Hyltoft-Petersen, P.5    Horder, M.6
  • 39
    • 0027529285 scopus 로고
    • Orphan peak analysis: A novel method for detection of point mutations using an automated fluorescence DNA sequencer
    • Hattori, M., Shibata, A., Yoshioka, K., and Sakaki, Y. 1993. Orphan peak analysis: a novel method for detection of point mutations using an automated fluorescence DNA sequencer. Genomics 15: 415-417.
    • (1993) Genomics , vol.15 , pp. 415-417
    • Hattori, M.1    Shibata, A.2    Yoshioka, K.3    Sakaki, Y.4
  • 40
    • 0030818823 scopus 로고    scopus 로고
    • Base excision sequence scanning
    • Hawkins, G.A., and Hoffman, L.M. 1997. Base excision sequence scanning. Nature Biotech. 15: 803-804.
    • (1997) Nature Biotech. , vol.15 , pp. 803-804
    • Hawkins, G.A.1    Hoffman, L.M.2
  • 41
    • 0032980884 scopus 로고    scopus 로고
    • Rapid DNA mutation identification and fingerprinting using base excision sequence scanning
    • Hawkins, G.A., Hoffman, L.M. 1999. Rapid DNA mutation identification and fingerprinting using base excision sequence scanning. Electrophoresis. 20: 1171-1176.
    • (1999) Electrophoresis , vol.20 , pp. 1171-1176
    • Hawkins, G.A.1    Hoffman, L.M.2
  • 42
    • 0026207465 scopus 로고
    • PCR-SSCP: A simple and sensitive method for detection of mutations in the genomic DNA
    • Hayashi, K. 1991. PCR-SSCP: a simple and sensitive method for detection of mutations in the genomic DNA. PCR Methods Applic. 1: 34-38.
    • (1991) PCR Methods Applic. , vol.1 , pp. 34-38
    • Hayashi, K.1
  • 43
    • 0027434131 scopus 로고
    • How sensitive is PCR-SSCP?
    • Hayashi, K. and Yandell, D.W. 1993. How sensitive is PCR-SSCP? Hum. Mutation 2: 338-346.
    • (1993) Hum. Mutation , vol.2 , pp. 338-346
    • Hayashi, K.1    Yandell, D.W.2
  • 44
    • 0028248410 scopus 로고
    • Temperature gradient gel electrophoresis (TGGE) for the detection of polymorphic DNA and RNA
    • Henco, K., Harders, J., Wiese, U., and Riesner, D. 1994. Temperature gradient gel electrophoresis (TGGE) for the detection of polymorphic DNA and RNA.Methods Mol. Biol. 31: 211-228.
    • (1994) Methods Mol. Biol. , vol.31 , pp. 211-228
    • Henco, K.1    Harders, J.2    Wiese, U.3    Riesner, D.4
  • 45
    • 0032903821 scopus 로고    scopus 로고
    • Dynamic allele-specific hybridization. A new method for scoring single nucleotide polymorphisms
    • Howell, W.M., Jobs, M., Gyllensten, U., and Brookes, A.J. 1999. Dynamic allele-specific hybridization. A new method for scoring single nucleotide polymorphisms. Nature Biotechnol. 17: 87-88.
    • (1999) Nature Biotechnol. , vol.17 , pp. 87-88
    • Howell, W.M.1    Jobs, M.2    Gyllensten, U.3    Brookes, A.J.4
  • 46
    • 0034858197 scopus 로고    scopus 로고
    • A universal SNP genotyping assay with fluorescence polarization detection
    • Hsu, T.M., Chen, X., Duan, S., Miller, R., and Kwok, P.-Y. 2001a. A universal SNP genotyping assay with fluorescence polarization detection. BioTechniques, 31: 560-570.
    • (2001) BioTechniques , vol.31 , pp. 560-570
    • Hsu, T.M.1    Chen, X.2    Duan, S.3    Miller, R.4    Kwok, P.-Y.5
  • 47
    • 0034911697 scopus 로고    scopus 로고
    • Genotyping single nucleotide polymorphisms by the Invader assay with dual-color fluorescence polarization detection
    • Hsu, T.M., Law, S.M., Duan, S., Neri, B.P., Kwok, P.-Y. 2001b. Genotyping single nucleotide polymorphisms by the Invader assay with dual-color fluorescence polarization detection. Clin. Chem. 47: 1373-1377.
    • (2001) Clin. Chem. , vol.47 , pp. 1373-1377
    • Hsu, T.M.1    Law, S.M.2    Duan, S.3    Neri, B.P.4    Kwok, P.-Y.5
  • 48
  • 50
    • 0033980701 scopus 로고    scopus 로고
    • Multiplexed single nucleotide polymorphism genotyping by oligonucleotide ligation and flow cytometry
    • Iannone, M.A., Taylor, J.D., Chen, J., Li, M.S., Rivers, P., Slentz-Kesler, K.A., and Weiner, M.P. 2000. Multiplexed single nucleotide polymorphism genotyping by oligonucleotide ligation and flow cytometry. Cytometry. 39: 131-140.
    • (2000) Cytometry , vol.39 , pp. 131-140
    • Iannone, M.A.1    Taylor, J.D.2    Chen, J.3    Li, M.S.4    Rivers, P.5    Slentz-Kesler, K.A.6    Weiner, M.P.7
  • 51
    • 0031263204 scopus 로고    scopus 로고
    • A streamlined mutation detection system: Multicolor post-PCR fluorescence labeling and single-strand conformational polymorphism analysis by capillary electrophoresis
    • Inazuka, M., Wenz, H.M., Sakabe, M., Tahira, T., and Hayashi, K. 1997. A streamlined mutation detection system: multicolor post-PCR fluorescence labeling and single-strand conformational polymorphism analysis by capillary electrophoresis. Genome Res. 7: 1094-1103.
    • (1997) Genome Res. , vol.7 , pp. 1094-1103
    • Inazuka, M.1    Wenz, H.M.2    Sakabe, M.3    Tahira, T.4    Hayashi, K.5
  • 52
    • 2042437650 scopus 로고    scopus 로고
    • Initial sequencing and analysis of the human genome
    • International Human Genome Sequencing Consortium
    • International Human Genome Sequencing Consortium. 2001. Initial sequencing and analysis of the human genome. Nature 409: 860-921.
    • (2001) Nature , vol.409 , pp. 860-921
  • 53
    • 0033779878 scopus 로고    scopus 로고
    • Genome-wide analysis of single-nucleotide polymorphisms in human expressed sequences
    • Irizarry, K., Kustanovich, V., Li, C., Brown, N., Nelson, S., Wong, W., and Lee, C.J. 2000. Genome-wide analysis of single-nucleotide polymorphisms in human expressed sequences. Nat. Genet. 26: 233-236.
    • (2000) Nat. Genet. , vol.26 , pp. 233-236
    • Irizarry, K.1    Kustanovich, V.2    Li, C.3    Brown, N.4    Nelson, S.5    Wong, W.6    Lee, C.J.7
  • 54
    • 0034068308 scopus 로고    scopus 로고
    • Strategies in complex disease mapping
    • Johnson, G.C. and Todd, J.A. 2000. Strategies in complex disease mapping. Curr. Opin. Genet. Dev. 10: 330-334.
    • (2000) Curr. Opin. Genet. Dev. , vol.10 , pp. 330-334
    • Johnson, G.C.1    Todd, J.A.2
  • 56
    • 0026007392 scopus 로고
    • Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels
    • Keen, J., Lester, D., Inglehearn, C., Curtis, A., and Bhattacharya, S. 1991. Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels. Trends Genet. 7: 5.
    • (1991) Trends Genet. , vol.7 , pp. 5
    • Keen, J.1    Lester, D.2    Inglehearn, C.3    Curtis, A.4    Bhattacharya, S.5
  • 57
    • 0032587940 scopus 로고    scopus 로고
    • Detection of the DeltaF508 mutation in the CFTR gene by means of time-resolved fluorescence methods
    • Kirschstein, S., Winter, S., Turner, D., and Lober, G. 1999. Detection of the DeltaF508 mutation in the CFTR gene by means of time-resolved fluorescence methods. Bioelectrochem Bioenerg. 48: 415-421.
    • (1999) Bioelectrochem. Bioenerg. , vol.48 , pp. 415-421
    • Kirschstein, S.1    Winter, S.2    Turner, D.3    Lober, G.4
  • 59
    • 0037394519 scopus 로고    scopus 로고
    • RNaseCut: A MALDI mass spectrometry-based method for SNP discovery
    • Krebs, S., Medugorac, I., Seichter, D., and Forster, M. 2003. RNaseCut: a MALDI mass spectrometry-based method for SNP discovery. Nucleic Acids Res. 31:e37.
    • (2003) Nucleic Acids Res. , vol.31
    • Krebs, S.1    Medugorac, I.2    Seichter, D.3    Forster, M.4
  • 60
    • 0033428098 scopus 로고    scopus 로고
    • Clinical, genetic, and pharmacogenetic applications of the Invader assay
    • Kwiatkowski, R.W., Lyamichev, V., de Arruda, M., and Neri, B. 1999. Clinical, genetic, and pharmacogenetic applications of the Invader assay. Mol. Diagn. 4:353-364.
    • (1999) Mol. Diagn. , vol.4 , pp. 353-364
    • Kwiatkowski, R.W.1    Lyamichev, V.2    de Arruda, M.3    Neri, B.4
  • 61
    • 0028086580 scopus 로고
    • Comparative analysis of human DNA variations by fluorescence-based sequencing of PCR products
    • Kwok, P.Y., Carlson, C., Yager, T.D., Ankener, W., and Nickerson, D.A. 1994. Comparative analysis of human DNA variations by fluorescence-based sequencing of PCR products. Genomics 23: 138-144.
    • (1994) Genomics , vol.23 , pp. 138-144
    • Kwok, P.Y.1    Carlson, C.2    Yager, T.D.3    Ankener, W.4    Nickerson, D.A.5
  • 62
    • 0030021312 scopus 로고    scopus 로고
    • Increasing the information content of STS-based genome maps: Identifying polymorphisms in mapped STSs
    • Kwok, P.Y., Deng, Q., Zakeri, H., Taylor, S.L., and Nickerson, D.A. 1996. Increasing the information content of STS-based genome maps: identifying polymorphisms in mapped STSs. Genomics 31: 123-126.
    • (1996) Genomics , vol.31 , pp. 123-126
    • Kwok, P.Y.1    Deng, Q.2    Zakeri, H.3    Taylor, S.L.4    Nickerson, D.A.5
  • 63
    • 0031614207 scopus 로고    scopus 로고
    • Detection of single nucleotide variations
    • Kwok, P.Y. and Chen, X. 1998. Detection of single nucleotide variations. Genet. Eng. (N Y). 20: 125-134.
    • (1998) Genet. Eng. (N Y) , vol.20 , pp. 125-134
    • Kwok, P.Y.1    Chen, X.2
  • 64
    • 0034139860 scopus 로고    scopus 로고
    • High-throughput genotyping assay approaches
    • Kwok, P.Y. 2000. High-throughput genotyping assay approaches. Pharmacogenomics. 1: 95-100.
    • (2000) Pharmacogenomics , vol.1 , pp. 95-100
    • Kwok, P.Y.1
  • 65
    • 0035174685 scopus 로고    scopus 로고
    • Reflections on a DNA mutation scanning tool
    • Kwok P.Y. 2001. Reflections on a DNA mutation scanning tool. Nat. Biotechnol. 19: 18-19.
    • (2001) Nat. Biotechnol. , vol.19 , pp. 18-19
    • Kwok, P.Y.1
  • 67
    • 0035078440 scopus 로고    scopus 로고
    • Fluorescence polarization in homogeneous nucleic acid analysis II: 5′-nuclease assay
    • Latif, S., Bauer-Sardiña, I., Ranade, K., Livak, K., and Kwok, P.-Y. 2001. Fluorescence polarization in homogeneous nucleic acid analysis II: 5′-nuclease assay. Genome Res. 11: 436-440.
    • (2001) Genome Res. , vol.11 , pp. 436-440
    • Latif, S.1    Bauer-Sardiña, I.2    Ranade, K.3    Livak, K.4    Kwok, P.-Y.5
  • 69
    • 0028298034 scopus 로고
    • Mutation detection by mismatch binding protein, MutS, in amplified DNA: Application to the cystic fibrosis gene
    • Lishanski, A., Ostrander, E.A., and Rine, J. 1994. Mutation detection by mismatch binding protein, MutS, in amplified DNA: application to the cystic fibrosis gene. Proc. Nat. Acad. Sci. U.S.A. 91: 2674-2678.
    • (1994) Proc. Nat. Acad. Sci. U.S.A. , vol.91 , pp. 2674-2678
    • Lishanski, A.1    Ostrander, E.A.2    Rine, J.3
  • 70
    • 0024514081 scopus 로고
    • A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene
    • Litt, M. and Luty, J.A. 1989. A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. Am. J. Hum. Genet. 44: 397-401.
    • (1989) Am. J. Hum. Genet. , vol.44 , pp. 397-401
    • Litt, M.1    Luty, J.A.2
  • 71
    • 0033006003 scopus 로고    scopus 로고
    • Allelic discrimination using fluorogenic probes and the 5′ nuclease assay
    • Livak, K.J. 1999. Allelic discrimination using fluorogenic probes and the 5′ nuclease assay. Genet. Anal. 14: 143-149.
    • (1999) Genet. Anal. , vol.14 , pp. 143-149
    • Livak, K.J.1
  • 72
    • 0031831323 scopus 로고    scopus 로고
    • Mutation detection and single-molecule counting using isothermal rolling-circle amplification
    • Lizardi, P.M., Huang, X., Zhu, Z., Bray-Ward, P., Thomas, D.C., and Ward, D.C. 1998. Mutation detection and single-molecule counting using isothermal rolling-circle amplification. Nature Genet. 19: 225-232.
    • (1998) Nature 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
    • 0033560279 scopus 로고    scopus 로고
    • As consortium plans free SNP map of human genome
    • Masood, E. 1999. As consortium plans free SNP map of human genome. Nature 398: 545-546.
    • (1999) Nature , vol.398 , pp. 545-546
    • Masood, E.1
  • 77
    • 0026355962 scopus 로고
    • Mechanisms and biological effects of mismatch repair
    • Modrich, P. 1991. Mechanisms and biological effects of mismatch repair. Annu. Rev. Genet. 25: 229-253.
    • (1991) Annu. Rev. Genet. , vol.25 , pp. 229-253
    • Modrich, P.1
  • 78
    • 0035154453 scopus 로고    scopus 로고
    • High-Throughput SNP genotyping by allele-specific PCR with universal energy-transfer-labeled primers
    • Myakishev, M.V., Khripin, Y., Hu, S., and Hamer, D.H. 2001. High-Throughput SNP genotyping by allele-specific PCR with universal energy-transfer-labeled primers. Genome Res. 11: 163-169.
    • (2001) Genome Res. , vol.11 , pp. 163-169
    • Myakishev, M.V.1    Khripin, Y.2    Hu, S.3    Hamer, D.H.4
  • 79
    • 0022353404 scopus 로고
    • Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes
    • Myers, R.M., Larin, Z., and Maniatis, T. 1985a. Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes. Science 230: 1242-1246.
    • (1985) Science , vol.230 , pp. 1242-1246
    • Myers, R.M.1    Larin, Z.2    Maniatis, T.3
  • 80
    • 0021918737 scopus 로고
    • Detection of single base substitutions in total genomic DNA
    • Myers, R.M., Lumelsky, N., Lerman, L.S., and Maniatis, T. 1985b. Detection of single base substitutions in total genomic DNA. Nature 313: 495-498.
    • (1985) Nature , vol.313 , pp. 495-498
    • Myers, R.M.1    Lumelsky, N.2    Lerman, L.S.3    Maniatis, T.4
  • 81
    • 0030872838 scopus 로고    scopus 로고
    • PolyPhred: Automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing
    • Nickerson, D.A., Tobe, V.O., and Taylor, S.L. 1997. PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res. 25: 2745-2751.
    • (1997) Nucleic Acids Res. , vol.25 , pp. 2745-2751
    • Nickerson, D.A.1    Tobe, V.O.2    Taylor, S.L.3
  • 82
    • 0034234709 scopus 로고    scopus 로고
    • Method enabling pyrosequencing on double-stranded DNA
    • Nordstrom, T., Nourizad, K., Ronaghi, M., and Nyren, P. 2000. Method enabling pyrosequencing on double-stranded DNA. Anal. Biochem. 282: 186-193.
    • (2000) Anal. Biochem. , vol.282 , pp. 186-193
    • Nordstrom, T.1    Nourizad, K.2    Ronaghi, M.3    Nyren, P.4
  • 83
    • 0026536644 scopus 로고
    • Repair of DNA heteroduplexes containing small heterologous sequences in Escherichia coli
    • Parker, B.O., and Marinus, M.G. 1992. Repair of DNA heteroduplexes containing small heterologous sequences in Escherichia coli. Proc. Nat. Acad. Sci. U.S.A. 89: 1730-1734.
    • (1992) Proc. Nat. Acad. Sci. U.S.A. , vol.89 , pp. 1730-1734
    • Parker, B.O.1    Marinus, M.G.2
  • 84
    • 0029658425 scopus 로고    scopus 로고
    • AmpliTaq DNA polymerase, FS dye-terminator sequencing: Analysis of peak height patterns
    • Parker, L.T., Zakeri, H., Deng, Q., Spurgeon, S., Kwok, P.-Y., and Nickerson, D.A. 1996. AmpliTaq DNA polymerase, FS dye-terminator sequencing: analysis of peak height patterns. BioTechniques 21: 694-699.
    • (1996) BioTechniques , vol.21 , pp. 694-699
    • Parker, L.T.1    Zakeri, H.2    Deng, Q.3    Spurgeon, S.4    Kwok, P.-Y.5    Nickerson, D.A.6
  • 85
    • 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., and Syvanen, A.C. 1997. Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays. Genome Res. 7: 606-614.
    • (1997) Genome Res. , vol.7 , pp. 606-614
    • Pastinen, T.1    Kurg, A.2    Metspalu, A.3    Peltonen, L.4    Syvanen, A.C.5
  • 86
    • 0033865806 scopus 로고    scopus 로고
    • A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays
    • Pastinen, T., Raitio, M., Lindroos, K., Tainola, P., Peltonen, L., and Syvanen, A.C. 2000. A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays. Genome Res. 10: 1031-1042.
    • (2000) Genome Res. , vol.10 , pp. 1031-1042
    • Pastinen, T.1    Raitio, M.2    Lindroos, K.3    Tainola, P.4    Peltonen, L.5    Syvanen, A.C.6
  • 88
    • 0035147075 scopus 로고    scopus 로고
    • Robust and accurate single nucleotide polymorphism genotyping by dynamic allele-specific hybridization (dash): Design criteria and assay validation
    • Prince, J.A., Feuk, L., Howell, W.M., Jobs, M., Emahazion, T., Blennow, K., and Brookes, A.J. 2001. Robust and accurate single nucleotide polymorphism genotyping by dynamic allele-specific hybridization (dash): design criteria and assay validation. Genome Res. 11: 152-162.
    • (2001) Genome Res. , vol.11 , pp. 152-162
    • Prince, J.A.1    Feuk, L.2    Howell, W.M.3    Jobs, M.4    Emahazion, T.5    Blennow, K.6    Brookes, A.J.7
  • 89
    • 0034660559 scopus 로고    scopus 로고
    • Searching for genetic determinants in the new millennium
    • Risch, N.J. 2000. Searching for genetic determinants in the new millennium. Nature. 405: 847-856.
    • (2000) Nature , vol.405 , pp. 847-856
    • Risch, N.J.1
  • 90
    • 0032519307 scopus 로고    scopus 로고
    • Automating the identification of DNA variations using quality-based fluorescence re-sequencing: Analysis of the human mitochondrial genome
    • Rieder, M.J., Taylor, S.L., Tobe, V.O., and Nickerson, D.A. 1998. Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome. Nucleic Acids Res. 26: 967-973.
    • (1998) Nucleic Acids Res. , vol.26 , pp. 967-973
    • Rieder, M.J.1    Taylor, S.L.2    Tobe, V.O.3    Nickerson, D.A.4
  • 91
    • 0035153070 scopus 로고    scopus 로고
    • Pyrosequencing Sheds Light on DNA Sequencing
    • Ronaghi, M. 2001. Pyrosequencing Sheds Light on DNA Sequencing. Genome Res. 11: 3-11.
    • (2001) Genome Res. , vol.11 , pp. 3-11
    • Ronaghi, M.1
  • 92
    • 0031734601 scopus 로고    scopus 로고
    • High level multiplex genotyping by MALDI-TOF mass spectrometry
    • Ross, P., Hall, L., Smirnov, I., and Haff, L. 1998. High level multiplex genotyping by MALDI-TOF mass spectrometry. Nature Biotechnol. 16: 1347-1351.
    • (1998) Nature Biotechnol. , vol.16 , pp. 1347-1351
    • Ross, P.1    Hall, L.2    Smirnov, I.3    Haff, L.4
  • 93
    • 0031127725 scopus 로고    scopus 로고
    • Detection of mutations in human genes by a new rapid method: Cleavage fragment length polymorphism analysis (CFLPA)
    • Rossetti, S., Englisch, S., Bresin, E., Pignatti, P.F., and Turco, A.E. 1997. Detection of mutations in human genes by a new rapid method: cleavage fragment length polymorphism analysis (CFLPA). Mol. Cell. Probes 11: 155-160.
    • (1997) Mol. Cell. Probes , vol.11 , pp. 155-160
    • Rossetti, S.1    Englisch, S.2    Bresin, E.3    Pignatti, P.F.4    Turco, A.E.5
  • 94
    • 0022372670 scopus 로고
    • Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia
    • Saiki, R.K., Scharf, S., Faloona, F., Mullis, K.B., Horn, G.T., Erlich, H.A., and Arnheim, N. 1985. Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 230: 1350-1354.
    • (1985) Science , vol.230 , pp. 1350-1354
    • Saiki, R.K.1    Scharf, S.2    Faloona, F.3    Mullis, K.B.4    Horn, G.T.5    Erlich, H.A.6    Arnheim, N.7
  • 95
    • 0000023099 scopus 로고
    • Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes
    • Sheffield, V.C., Cox, D.R., Lerman, L.S., and Myers, R.M. 1989. Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. Proc. Natl. Acad. Sci. USA. 86: 232-236.
    • (1989) Proc. Natl. Acad. Sci. USA. , vol.86 , pp. 232-236
    • Sheffield, V.C.1    Cox, D.R.2    Lerman, L.S.3    Myers, R.M.4
  • 96
    • 0027193630 scopus 로고
    • The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions
    • Sheffield, V.C., Beck, J.S., Kwitek, A.E., Sandstrom, D.W., and Stone, E.M. 1993. The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics 16: 325-332.
    • (1993) Genomics , vol.16 , pp. 325-332
    • Sheffield, V.C.1    Beck, J.S.2    Kwitek, A.E.3    Sandstrom, D.W.4    Stone, E.M.5
  • 97
    • 0029877956 scopus 로고    scopus 로고
    • Mutation detection by solid phase primer extension
    • Shumaker, J.M., Metspalu, A., and Caskey, C.T. 1996. Mutation detection by solid phase primer extension. Hum. Mutat. 7: 346-354.
    • (1996) Hum. Mutat. , vol.7 , pp. 346-354
    • Shumaker, J.M.1    Metspalu, A.2    Caskey, C.T.3
  • 98
    • 0033737005 scopus 로고    scopus 로고
    • High-accuracy DNA sequence variation screening by DHPLC
    • Spiegelman, J.I., Mindrinos, M.N., and Oefner P.J. 2000. High-accuracy DNA sequence variation screening by DHPLC. Biotechniques 29: 1084-1092.
    • (2000) Biotechniques , vol.29 , pp. 1084-1092
    • Spiegelman, J.I.1    Mindrinos, M.N.2    Oefner, P.J.3
  • 100
    • 0029023051 scopus 로고
    • A single residue in DNA polymerases of the Escherichia coli DNA polymerase I family is critical for distinguishing between deoxy- and dideoxyribonucleotides
    • Tabor, S. and Richardson, C.C. 1995. A single residue in DNA polymerases of the Escherichia coli DNA polymerase I family is critical for distinguishing between deoxy- and dideoxyribonucleotides. Proc. Nat. Acad. Sci. USA. 92: 6339-6343
    • (1995) Proc. Nat. Acad. Sci. USA , vol.92 , pp. 6339-6343
    • Tabor, S.1    Richardson, C.C.2
  • 101
    • 0031669184 scopus 로고    scopus 로고
    • Overlapping genomic sequences: A treasure trove of single-nucleotide polymorphisms
    • Taillon-Miller, P., Gu, Z., Li, Q., Hillier, L., and Kwok, P.Y. 1998. Overlapping genomic sequences: a treasure trove of single-nucleotide polymorphisms. Genome Res. 8: 748-754.
    • (1998) Genome Res. , vol.8 , pp. 748-754
    • Taillon-Miller, P.1    Gu, Z.2    Li, Q.3    Hillier, L.4    Kwok, P.Y.5
  • 102
    • 0035865322 scopus 로고    scopus 로고
    • A map of human genome sequence variation containing 1.4 million SNPs
    • The International SNP Map Working Group
    • The International SNP Map Working Group. 2001. A map of human genome sequence variation containing 1.4 million SNPs. Nature. 409: 928-933.
    • (2001) Nature , vol.409 , pp. 928-933
  • 103
    • 0034329599 scopus 로고    scopus 로고
    • Effective capillary electrophoresis-based heteroduplex analysis through optimization of surface coating and polymer networks
    • Tian, H., Brody, L.C., Mao, D., and Landers, J.P. 2000. Effective capillary electrophoresis-based heteroduplex analysis through optimization of surface coating and polymer networks. Anal. Chem. 72: 5483-5492.
    • (2000) Anal. Chem. , vol.72 , pp. 5483-5492
    • Tian, H.1    Brody, L.C.2    Mao, D.3    Landers, J.P.4
  • 104
    • 0034085730 scopus 로고    scopus 로고
    • DzyNA-PCR: Use of DNAzymes to detect and quantify nucleic acid sequences in a real-time fluorescent format
    • Todd, A.V., Fuery, C.J., Impey, H.L., Applegate, T.L., and Haughton, M.A. 2000. DzyNA-PCR: use of DNAzymes to detect and quantify nucleic acid sequences in a real-time fluorescent format. Clin. Chem. 46: 625-630.
    • (2000) Clin. Chem. , vol.46 , pp. 625-630
    • Todd, A.V.1    Fuery, C.J.2    Impey, H.L.3    Applegate, T.L.4    Haughton, M.A.5
  • 106
    • 0031983834 scopus 로고    scopus 로고
    • Multicolor molecular beacons for allele discrimination
    • Tyagi, S., Bratu, D.P., and Kramer, F.R. 1998. Multicolor molecular beacons for allele discrimination. Nature Biotechnol. 16: 49-53.
    • (1998) Nature Biotechnol. , vol.16 , pp. 49-53
    • Tyagi, S.1    Bratu, D.P.2    Kramer, F.R.3
  • 108
    • 0032004378 scopus 로고    scopus 로고
    • A novel process for mutation detection using uracil DNA-glycosylase
    • Vaughan, P. and McCarthy, T.V. 1998. A novel process for mutation detection using uracil DNA-glycosylase. Nucleic Acids Res. 26: 810-815.
    • (1998) Nucleic Acids Res. , vol.26 , pp. 810-815
    • Vaughan, P.1    McCarthy, T.V.2
  • 110
    • 0028871390 scopus 로고
    • Mutation detection using immobilized mismatch binding protein (MutS)
    • Wagner, R., Debbie, P., and Radman, M. 1995. Mutation detection using immobilized mismatch binding protein (MutS). Nucleic Acids Res. 23: 3944-3948.
    • (1995) Nucleic Acids Res. , vol.23 , pp. 3944-3948
    • Wagner, R.1    Debbie, P.2    Radman, M.3
  • 112
    • 0030756573 scopus 로고    scopus 로고
    • Nucleic-acid immobilization, recognition and detection at chronopotentiometric DNA chips
    • Wang, J., Cai, X., Rivas, G., Shiraishi, H., and Dontha, N. 1997. Nucleic-acid immobilization, recognition and detection at chronopotentiometric DNA chips. Biosens Bioelectron. 12: 587-599.
    • (1997) Biosens Bioelectron. , vol.12 , pp. 587-599
    • Wang, J.1    Cai, X.2    Rivas, G.3    Shiraishi, H.4    Dontha, N.5
  • 113
    • 0024582686 scopus 로고
    • Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction
    • Weber, J.L. and May, P.E. 1989. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am. J. Hum. Genet. 44: 388-396.
    • (1989) Am. J. Hum. Genet. , vol.44 , pp. 388-396
    • Weber, J.L.1    May, P.E.2
  • 114
    • 0028899568 scopus 로고
    • Screening for mutations by enzyme mismatch cleavage with T4 endonuclease VII
    • Youil, R., Kemper, B.W., and Cotton, R.G.H. 1995. Screening for mutations by enzyme mismatch cleavage with T4 endonuclease VII. Proc. Nat. Acad. Sci. USA. 92: 87-91.
    • (1995) Proc. Nat. Acad. Sci. USA , vol.92 , pp. 87-91
    • Youil, R.1    Kemper, B.W.2    Cotton, R.G.H.3
  • 115
    • 0029865533 scopus 로고    scopus 로고
    • Detection of 81 of 81 known mouse beta-globin promoter mutations with T4 endonuclease VII - The EMC method
    • Youil, R., Kemper, B., and Cotton, R.G. 1996. Detection of 81 of 81 known mouse beta-globin promoter mutations with T4 endonuclease VII - the EMC method. Genomics 32: 431-435.
    • (1996) Genomics , vol.32 , pp. 431-435
    • Youil, R.1    Kemper, B.2    Cotton, R.G.3
  • 116
    • 0031687519 scopus 로고    scopus 로고
    • Peak height pattern in dichlororhodamine and energy transfer dye terminator sequencing
    • Zakeri, H., Amparo, G., Chen, S.M., Spurgeon, S., and Kwok, P.Y. 1998. Peak height pattern in dichlororhodamine and energy transfer dye terminator sequencing. Biotechniques 25: 406-414.
    • (1998) Biotechniques , vol.25 , pp. 406-414
    • Zakeri, H.1    Amparo, G.2    Chen, S.M.3    Spurgeon, S.4    Kwok, P.Y.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.