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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 111-120 of 183 total displayed.

Past content

NAR Methods Online
Single nucleotide polymorphism genotyping using short, fluorescently labeled locked nucleic acid (LNA) probes and fluorescence polarization detection
Anton Simeonov and Theo T. Nikiforov
Nucleic Acids Res. 2002; 30: e91. [Abstract] [Full text] [Print PDF]  

NAR Methods Online
Counting CAG repeats in the Huntington’s disease gene by restriction endonuclease EcoP15I cleavage
Elisabeth Möncke-Buchner, Stefanie Reich, Merlind Mücke, Monika Reuter, Walter Messer, Erich E. Wanker, and Detlev H. Krüger
Nucleic Acids Res. 2002; 30: e83. [Abstract] [Full text] [Print PDF]  

NAR Methods Online
SNP genotyping on pooled DNAs: comparison of genotyping technologies and a semi automated method for data storage and analysis
Stéphanie Le Hellard, Stéphane J. Ballereau, Peter M. Visscher, Helen S. Torrance, Jeni Pinson, Stewart W. Morris, Marian L. Thomson, Colin A. M. Semple, Walter J. Muir, Douglas H. R. Blackwood, David J. Porteous, and Kathryn L. Evans
Nucleic Acids Res. 2002; 30: e74. [Abstract] [Full text] [Print PDF]  

NAR Methods Online
Re-sequencing of multiple single nucleotide polymorphisms by liquid chromatography–electrospray ionization mass spectrometry
H. Oberacher, P. J. Oefner, G. Hölzl, A. Premstaller, K. Davis, and C. G. Huber
Nucleic Acids Res. 2002; 30: e67. [Abstract] [Full text] [Print PDF]  

NAR Methods Online
Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR
Langping He, Patrick F. Chinnery, Steve E. Durham, Emma L. Blakely, Theresa M. Wardell, Gillian M. Borthwick, Robert W. Taylor, and Douglass M. Turnbull
Nucleic Acids Res. 2002; 30: e68. [Abstract] [Full text] [Print PDF]  

NAR Methods Online
Improved detection of small deletions in complex pools of DNA
Mark Edgley, Anil D’Souza, Gary Moulder, Sheldon McKay, Bin Shen, Erin Gilchrist, Donald Moerman, and Robert Barstead
Nucleic Acids Res. 2002; 30: e52. [Abstract] [Full text] [Print PDF]  

NAR Methods Online
High-throughput genotyping of single nucleotide polymorphisms using new biplex invader technology
Michael Olivier, Lee-Ming Chuang, Mau-Song Chang, Ying-Tsung Chen, Dee Pei, Koustubh Ranade, Anniek de Witte, Jennifer Allen, Nguyet Tran, David Curb, Richard Pratt, Henk Neefs, Monika de Arruda Indig, Scott Law, Bruce Neri, Lu Wang, and David R. Cox
Nucleic Acids Res. 2002; 30: e53. [Abstract] [Full text] [Print PDF] [ Supplementary Material ]  

NAR Methods Online
An electrochemical detection scheme for identification of single nucleotide polymorphisms using hairpin-forming probes
Tony Jun Huang, Minghsun Liu, Linda D. Knight, Wayne W. Grody, Jeff F. Miller, and Chih-Ming Ho
Nucleic Acids Res. 2002; 30: e55. [Abstract] [Full text] [Print PDF]  

NAR Methods Online
Label-free hybridization detection of a single nucleotide mismatch by immobilization of molecular beacons on an agarose film
Hong Wang, Jiong Li, Heping Liu, Quanjun Liu, Qian Mei, Yijin Wang, Jijun Zhu, Nongyue He, and Zuhong Lu
Nucleic Acids Res. 2002; 30: e61. [Abstract] [Full text] [Print PDF]  

NAR Methods Online
Direct micro-haplotyping by multiple double PCR amplifications of specific alleles (MD-PASA)
Yuval Eitan and Yechezkel Kashi
Nucleic Acids Res. 2002; 30: e62. [Abstract] [Full text] [Print PDF]  

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