期刊
HUMAN MUTATION
卷 19, 期 5, 页码 479-485出版社
WILEY-LISS
DOI: 10.1002/humu.10078
关键词
pyrosequencing; multiplexing; genotyping; SNP; haplotyping; sequencing; template preparation; allelic frequency; mutation detection
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.
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