Pyrosequencing: an accurate detection platform for single nucleotide polymorphisms.

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.

journal_name

Hum Mutat

journal_title

Human mutation

authors

Fakhrai-Rad H,Pourmand N,Ronaghi M

doi

10.1002/humu.10078

keywords:

subject

Has Abstract

pub_date

2002-05-01 00:00:00

pages

479-85

issue

5

eissn

1059-7794

issn

1098-1004

journal_volume

19

pub_type

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