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Volumn 48, Issue 2, 2011, Pages 123-130

GeneScreen: A program for high-throughput mutation detection in DNA sequence electropherograms

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 79551650317     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.082081     Document Type: Article
Times cited : (23)

References (19)
  • 1
    • 0024851559 scopus 로고
    • Detection and localization of base changes in RNA using a chemical cleavage method
    • Dahl HM, Lamande SR, Cotton RGH, et al. Detection and localization of base changes in RNA using a chemical cleavage method. Anal Biochem 1989;183:263-8.
    • (1989) Anal Biochem , vol.183 , pp. 263-268
    • Dahl, H.M.1    Lamande, S.R.2    Cotton, R.G.H.3
  • 2
    • 0001430252 scopus 로고
    • DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: Correspondence with melting theory
    • Fischer SG, Lerman LS. DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory. Proc Natl Acad Sci USA 1983;80:1579-83.
    • (1983) Proc Natl Acad Sci USA , vol.80 , pp. 1579-1583
    • Fischer, S.G.1    Lerman, L.S.2
  • 3
    • 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 VC, Cox DR, Lerman LS, et al. 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 1989;86:232-6.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 232-236
    • Sheffield, V.C.1    Cox, D.R.2    Lerman, L.S.3
  • 4
    • 0026357025 scopus 로고
    • Single base mutation in the hormone binding domain of the thyroid hormone receptor beta gene in generalised thyroid hormone resistance demonstrated by single stranded conformation polymorphism analysis
    • Boothroyd CV, Teh BT, Hayward NK, et al. Single base mutation in the hormone binding domain of the thyroid hormone receptor beta gene in generalised thyroid hormone resistance demonstrated by single stranded conformation polymorphism analysis. Biochem Biophys Res Comm 1991;178:606-12.
    • (1991) Biochem Biophys Res Comm , vol.178 , pp. 606-612
    • Boothroyd, C.V.1    Teh, B.T.2    Hayward, N.K.3
  • 5
    • 0031568919 scopus 로고    scopus 로고
    • Product differentiation by analysis of DNA melting curves during the polymerase chain reaction
    • Ririe KM, Rasmussen RP, Wittwer CT. Product differentiation by analysis of DNA melting curves during the polymerase chain reaction. Anal Biochem 1997;245:154-60.
    • (1997) Anal Biochem , vol.245 , pp. 154-160
    • Ririe, K.M.1    Rasmussen, R.P.2    Wittwer, C.T.3
  • 6
    • 1842267323 scopus 로고
    • Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA
    • Gibbs RA, Nguyen PN, McBride LJ, et al. Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc Natl Acad Sci USA 1989;86:1919-23.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 1919-1923
    • Gibbs, R.A.1    Nguyen, P.N.2    McBride, L.J.3
  • 7
    • 0027463033 scopus 로고
    • Screening for point mutations by semiautomated DNA sequencing using sequenase and magnetic beads
    • Leren TP, Rodningen OK, Rosby O, et al. Screening for point mutations by semiautomated DNA sequencing using sequenase and magnetic beads. Biotechniques 1993;14:618-23.
    • (1993) Biotechniques , vol.14 , pp. 618-623
    • Leren, T.P.1    Rodningen, O.K.2    Rosby, O.3
  • 8
    • 0034764307 scopus 로고    scopus 로고
    • SSAHA: A fast search method for large DNA databases
    • Ning Z, Cox AJ, Mullikin JC. SSAHA: a fast search method for large DNA databases. Genome Res 2001;11:1725-9.
    • (2001) Genome Res , vol.11 , pp. 1725-1729
    • Ning, Z.1    Cox, A.J.2    Mullikin, J.C.3
  • 9
    • 0031978181 scopus 로고    scopus 로고
    • Base-calling of automated sequencer traces using phred. II. Error probabilities
    • Ewing B, Green P. Base-calling of automated sequencer traces using phred. II. Error probabilities. Genome Res 1998;8:186-94.
    • (1998) Genome Res , vol.8 , pp. 186-194
    • Ewing, B.1    Green, P.2
  • 10
    • 0028086580 scopus 로고
    • Comparative analysis of human DNA variations by fluorescence-based sequencing of PCR products
    • Kwok PY, Carlson C, Yager TD, et al. Comparative analysis of human DNA variations by fluorescence-based sequencing of PCR products. Genomics 1994;23:138-44.
    • (1994) Genomics , vol.23 , pp. 138-144
    • Kwok, P.Y.1    Carlson, C.2    Yager, T.D.3
  • 11
    • 0030872838 scopus 로고    scopus 로고
    • PolyPhred: Automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing
    • Nickerson DA, Tobe VO, Taylor SL. PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res 1997;25:2745-51.
    • (1997) Nucleic Acids Res , vol.25 , pp. 2745-2751
    • Nickerson, D.A.1    Tobe, V.O.2    Taylor, S.L.3
  • 12
    • 25444448501 scopus 로고    scopus 로고
    • SeqDoC: Rapid SNP and mutation detection by direct comparison of DNA sequence chromatograms
    • Crowe ML. SeqDoC: rapid SNP and mutation detection by direct comparison of DNA sequence chromatograms. BMC Bioinformatics 2005;6:133.
    • (2005) BMC Bioinformatics , vol.6 , pp. 133
    • Crowe, M.L.1
  • 13
    • 22144431577 scopus 로고    scopus 로고
    • InSNP: A tool for automated detection and visualization of SNPs and InDels
    • Manaster C, Zheng W, Teuber M, et al. InSNP: a tool for automated detection and visualization of SNPs and InDels. Hum Mutat 2005;26:11-19.
    • (2005) Hum Mutat , vol.26 , pp. 11-19
    • Manaster, C.1    Zheng, W.2    Teuber, M.3
  • 14
  • 15
    • 15544369976 scopus 로고    scopus 로고
    • NovoSNP, a novel computational tool for sequence variation discovery
    • Weckx S, Del-Favero J, Rademakers R, et al. novoSNP, a novel computational tool for sequence variation discovery. Genome Res 2005;15:436-42.
    • (2005) Genome Res , vol.15 , pp. 436-442
    • Weckx, S.1    Del-Favero, J.2    Rademakers, R.3
  • 16
    • 67651046936 scopus 로고    scopus 로고
    • Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting
    • Ellard S, Shields B, Tysoe C, et al. Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting. Genet Test Mol Biomarkers 2009;13:381-6.
    • (2009) Genet Test Mol Biomarkers , vol.13 , pp. 381-386
    • Ellard, S.1    Shields, B.2    Tysoe, C.3
  • 17
    • 0032528315 scopus 로고    scopus 로고
    • Automated detection of point mutations using fluorescent sequence trace subtraction
    • Bonfield JK, Rada C, Staden R. Automated detection of point mutations using fluorescent sequence trace subtraction. Nucleic Acids Res 1998;26:3404-9.
    • (1998) Nucleic Acids Res , vol.26 , pp. 3404-3409
    • Bonfield, J.K.1    Rada, C.2    Staden, R.3
  • 18
    • 33644624797 scopus 로고    scopus 로고
    • Automating sequence-based detection and genotyping of SNPs from diploid samples
    • Stephens M, Sloan JS, Robertson PD, et al. Automating sequence-based detection and genotyping of SNPs from diploid samples. Nat Genet 2006;38:375-81.
    • (2006) Nat Genet , vol.38 , pp. 375-381
    • Stephens, M.1    Sloan, J.S.2    Robertson, P.D.3
  • 19
    • 34548084253 scopus 로고    scopus 로고
    • SNPdetector: A software tool for sensitive and accurate SNP detection
    • Zhang J, Wheeler DA, Yakub I, et al. SNPdetector: a software tool for sensitive and accurate SNP detection. PLoS Comput Biol 2005;5:e53.
    • (2005) PLoS Comput Biol , vol.5
    • Zhang, J.1    Wheeler, D.A.2    Yakub, I.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.