Pyrosequencing: an accurate detection platform for single nucleotide polymorphisms

Hum Mutat. 2002 May;19(5):479-85. doi: 10.1002/humu.10078.


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.

Publication types

  • Review

MeSH terms

  • Alleles
  • DNA Mutational Analysis / instrumentation
  • DNA Mutational Analysis / methods*
  • Gene Frequency / genetics
  • Genotype
  • Humans
  • Polymorphism, Single Nucleotide / genetics*