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Pyrosequencing™: An accurate detection platform for single nucleotide polymorphisms

✍ Scribed by Hossein Fakhrai-Rad; Nader Pourmand; Mostafa Ronaghi


Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
322 KB
Volume
19
Category
Article
ISSN
1059-7794

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✦ Synopsis


Communicated by Christine Van Broeckhoven

Pyrosequencing, a non-electrophoretic method for DNA sequencing, is emerging as a popular platform for analysis of single nucleotide polymorphisms (SNPs). This technology has the advantage of accuracy, ease-of-use, and high flexibility for different applications. Here, we review the methodology and the use of this technique for SNP genotyping, SNP discovery, haplotyping, and allelic frequency studies. In addition, we describe new schemes for template preparation and multiplexing as an effort for cost reduction in large-scale studies. Hum Mutat 19:479485, 2002.


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