Exo-Proofreading, A Versatile SNP Scoring Technology | Zendy

Patrick Cahill | Zendy; Michele Bakis | Zendy; James Hurley | Zendy; Veena Kamath | Zendy; William Nielsen | Zendy; Dina Weymouth | Zendy; Josée Dupuis | Zendy; Lynn DoucetteStamm | Zendy; Andrew R. Smith | Zendy

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Exo-Proofreading, A Versatile SNP Scoring Technology

Author(s) -

Patrick Cahill,

Michele Bakis,

James Hurley,

Veena Kamath,

William Nielsen,

Dina Weymouth,

Josée Dupuis,

Lynn DoucetteStamm,

Andrew R. Smith

Publication year - 2003

Publication title -

genome research

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 9.556

H-Index - 297

eISSN - 1549-5469

pISSN - 1088-9051

DOI - 10.1101/gr.939903

Subject(s) - proofreading , biology , primer (cosmetics) , molecular inversion probe , typing , genetics , single nucleotide polymorphism , computational biology , taq polymerase , snp , genomic dna , exonuclease , genotype , dna , dna polymerase , microbiology and biotechnology , thermus aquaticus , gene , chemistry , organic chemistry

We report the validation of a new assay for typing single nucleotide polymorphisms (SNPs) that takes advantage of the 3'-to-5' exonuclease proofreading activity of many DNA polymerases. The assay uses one or more primers labeled on the 3' nucleotide base, and can be implemented in a variety of formats including a one-step PCR reaction that allows SNP typing directly from genomic DNA samples. The detection of genotypes can be accomplished by means of fluorescence detection on assays that have been purified to remove excess primer, or by means of fluorescence polarization without any additional cleanup. We also demonstrate that the Exo-Proofreading SNP assay can be used on pooled samples to obtain allele frequency data.

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