Pyrosequencing: an accurate detection platform for single nucleotide polymorphisms.
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.
Fakhrai-Rad
Hossein
H
Stanford Genome Technology Center, Stanford University, Palo Alto, California, USA.
Pourmand
Nader
N
Ronaghi
Mostafa
M
D000483:Alleles; D004252:DNA Mutational Analysis / Q000295:instrumentation / Q000379:methods*; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*