Pyrosequencing?: An accurate detection platform for single nucleotide polymorphisms
- 10 April 2002
- journal article
- review article
- Published by Hindawi Limited in Human Mutation
- Vol. 19 (5) , 479-485
- https://doi.org/10.1002/humu.10078
Abstract
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 19:479–485, 2002.Keywords
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