Pyrosequencing™:: An accurate detection platform for single nucleotide polymorphisms

被引：179

作者：

Fakhrai-Rad, H ^{[1
]}

Pourmand, N ^{[1
]}

Ronaghi, M ^{[1
]}

机构：

[1] Stanford Univ, Stanford Genome Technol Ctr, Palo Alto, CA 94304 USA

来源：

HUMAN MUTATION | 2002年 / 19卷 / 05期

关键词：

pyrosequencing; multiplexing; genotyping; SNP; haplotyping; sequencing; template preparation; allelic frequency; mutation detection;

D O I：

10.1002/humu.10078

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：479 / 485

页数：7

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