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Polymorphism/mutation detection


This category describes new methods for detecting mutations or polymorphic sites. The method may address general principle of the polymorphism or mutation detection. Alternatively, widely useful methods may be developed for the detection of specific types of mutations or polymorphisms (e.g. tri-nucleotide repeats). These mutations or polymorphisms must however be widespread and not limited to a specific gene.


Citations 81-90 of 183 total displayed.

Past content

NAR Methods Online
SNPWaveTM: a flexible multiplexed SNP genotyping technology
Michiel J. T. van Eijk, José L. N. Broekhof, Hein J. A. van der Poel, René C. J. Hogers, Harrie Schneiders, Judith Kamerbeek, Esther Verstege, Joris W. van Aart, Henk Geerlings, Jaap B. Buntjer, A. Jan van Oeveren, and Pieter Vos
Nucleic Acids Res. 2004; 32: e47. [Abstract] [Full text] [Print PDF] [ Supplementary Material ]  

NAR Methods Online
Straightforward detection of SNPs in double-stranded DNA by using exonuclease III/nuclease S1/PNA system
Binzhi Ren, Jing-Min Zhou, and Makoto Komiyama
Nucleic Acids Res. 2004; 32: e42. [Abstract] [Full text] [Print PDF]  

NAR Methods Online
Strong positional preference in the interaction of LNA oligonucleotides with DNA polymerase and proofreading exonuclease activities: implications for genotyping assays
Daniel A. Di Giusto and Garry C. King
Nucleic Acids Res. 2004; 32: e32. [Abstract] [Full text] [Print PDF]  

NAR Methods Online
Determination of detection and quantification limits for SNP allele frequency estimation in DNA pools using real time PCR
Gerhard Schwarz, Stefan Bäumler, Annette Block, Friedrich G. Felsenstein, and Gerhard Wenzel
Nucleic Acids Res. 2004; 32: e24. [Abstract] [Full text] [Print PDF]  

NAR Methods Online
Rapid detection of single nucleotide polymorphisms associated with spinal muscular atrophy by use of a reusable fibre-optic biosensor
James H. Watterson, Sandeep Raha, Christopher C. Kotoris, Christopher C. Wust, Farhad Gharabaghi, Sarah C. Jantzi, Nicole K. Haynes, Nathalie H. Gendron, Ulrich J. Krull, Alex E. Mackenzie, and Paul A. E. Piunno
Nucleic Acids Res. 2004; 32: e18. [Abstract] [Full text] [Print PDF]  

NAR Methods Online
A novel MALDI–TOF based methodology for genotyping single nucleotide polymorphisms
Thorarinn Blondal, Benedikt G. Waage, Sigurdur V. Smarason, Frosti Jonsson, Sigridur B. Fjalldal, Kari Stefansson, Jeffery Gulcher, and Albert V. Smith
Nucleic Acids Res. 2003; 31: e155. [Abstract] [Full text] [Print PDF]  

NAR Methods Online
Viral and microbial genotyping by a combination of multiplex competitive hybridization and specific extension followed by hybridization to generic tag arrays
Baback Gharizadeh, Max Käller, Pål Nyrén, Anders Andersson, Mathias Uhlén, Joakim Lundeberg, and Afshin Ahmadian
Nucleic Acids Res. 2003; 31: e146. [Abstract] [Full text] [Print PDF]  

NAR Methods Online
Quantitative evaluation by minisequencing and microarrays reveals accurate multiplexed SNP genotyping of whole genome amplified DNA
Lovisa Lovmar, Mona Fredriksson, Ulrika Liljedahl, Snaevar Sigurdsson, and Ann-Christine Syvänen
Nucleic Acids Res. 2003; 31: e129. [Abstract] [Full text] [Print PDF] [ Supplementary Material ]  

NAR Methods Online
Real-time closed tube single nucleotide polymorphism (SNP) quantification in pooled samples by quencher extension (QEXT)
Knut Rudi and Askild L. Holck
Nucleic Acids Res. 2003; 31: e117. [Abstract] [Full text] [Print PDF]  

NAR Methods Online
Studies of temperature-dependent electronic transduction on DNA hairpin loop sensor
Youdong Mao, Chunxiong Luo, and Qi Ouyang
Nucleic Acids Res. 2003; 31: e108. [Abstract] [Full text] [Print PDF] [ Supplementary Material ]  

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