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
• DOI: 10.1002/humu.10078

✦ 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.