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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 1-10 of 168 total displayed.

Most recent content

Methods Online
Facile SNP detection using bifunctional, cross-linking oligonucleotide probes
Xiaohua Peng and Marc M. Greenberg
Nucleic Acids Res. 2008; 36: e31. [Abstract] [Full text] [Print PDF] [ Supplementary Data ]  

Past content

Methods Online
A bioinformatic filter for improved base-call accuracy and polymorphism detection using the Affymetrix GeneChip® whole-genome resequencing platform
Gagan A. Pandya, Michael H. Holmes, Sirisha Sunkara, Andrew Sparks, Yun Bai, Kathleen Verratti, Kelly Saeed, Pratap Venepally, Behnam Jarrahi, Robert D. Fleischmann, and Scott N. Peterson
Nucleic Acids Res. 2007; 35: e148. [Abstract] [Full text] [Print PDF] [ Supplementary Data ]  

Methods Online
FLAG assay as a novel method for real-time signal generation during PCR: application to detection and genotyping of KRAS codon 12 mutations
Giulia Amicarelli, Erlet Shehi, G. Mike Makrigiorgos, and Daniel Adlerstein
Nucleic Acids Res. 2007; 35: e131. [Abstract] [Full text] [Print PDF] [ Supplementary Data ]  

Methods Online
Nanoparticle-based detection and quantification of DNA with single nucleotide polymorphism (SNP) discrimination selectivity
Wei Jie Qin and Lin Yue Lanry Yung
Nucleic Acids Res. 2007; 35: e111. [Abstract] [Full text] [Print PDF] [ Supplementary Material ]  

Methods Online
Short pyrosequencing reads suffice for accurate microbial community analysis
Zongzhi Liu, Catherine Lozupone, Micah Hamady, Frederic D. Bushman, and Rob Knight
Nucleic Acids Res. 2007; 35: e120. [Abstract] [Full text] [Print PDF]  

Methods Online
Improved identification of enriched peptide–RNA cross-links from ribonucleoprotein particles (RNPs) by mass spectrometry
Eva Kühn-Hölsken, Olexandr Dybkov, Björn Sander, Reinhard Lührmann, and Henning Urlaub
Nucleic Acids Res. 2007; 35: e95. [Abstract] [Full text] [Print PDF]  

Methods Online
DNA bar coding and pyrosequencing to identify rare HIV drug resistance mutations
Christian Hoffmann, Nana Minkah, Jeremy Leipzig, Gary Wang, Max Q. Arens, Pablo Tebas, and Frederic D. Bushman
Nucleic Acids Res. 2007; 35: e91. [Abstract] [Full text] [Print PDF] [ Supplementary Material ] [ Supplementary Data ] [ Supplementary Data ]  

Computational Biology
SNAP: predict effect of non-synonymous polymorphisms on function
Yana Bromberg and Burkhard Rost
Nucleic Acids Res. 2007; 35: 3823-3835. [Abstract] [Full text] [Print PDF] [ Supplementary Material ]  

Methods Online
s-RT-MELT for rapid mutation scanning using enzymatic selection and real time DNA-melting: new potential for multiplex genetic analysis
Jin Li, Ross Berbeco, Robert J. Distel, Pasi A. Jänne, Lilin Wang, and G. Mike Makrigiorgos
Nucleic Acids Res. 2007; 35: e84. [Abstract] [Full text] [Print PDF] [ Supplementary Material ]  

Methods Online
Dual priming oligonucleotide system for the multiplex detection of respiratory viruses and SNP genotyping of CYP2C19 gene
Jong-Yoon Chun, Kyoung-Joong Kim, In-Taek Hwang, Yun-Jee Kim, Dae-Hoon Lee, In-Kyoung Lee, and Jong-Kee Kim
Nucleic Acids Res. 2007; 35: e40. [Abstract] [Full text] [Print PDF]  

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