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. 2002 Feb;3(1):51–56. doi: 10.1002/cfg.132

Discovery of Single Nucleotide Polymorphisms and Mutations by Pyrosequencing

Mostafa Ronaghi 1,3,✉, Elahe Elahi 1,2
PMCID: PMC2447241  PMID: 18628881

Abstract

Comparative genomics, analyzing variation among individual genomes, is an area of intense investigation. DNA sequencing is usually employed to look for polymorphisms and mutations. Pyrosequencing, a real-time DNA sequencing method, is emerging as a popular platform for comparative genomics. Here we review the use of this technology for mutation scanning, polymorphism discovery and chemical haplotyping. We describe the methodology and accuracy of this technique and discuss how to reduce the cost for large-scale analysis.

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Selected References

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