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Comparative and Functional Genomics
Volume 3, Issue 1, Pages 51-56

Discovery of Single Nucleotide Polymorphisms and Mutations by Pyrosequencing

1Stanford Genome Technology Center 855 California Avenue Palo Alto, CA 94304, USA
2Faculty of Science, University of Tehran, Tehran, Iran
3Stanford Genome Technology Center, Stanford University, 855 California Avenue, Palo Alto, CA 94304, USA

Received 23 October 2001; Accepted 27 November 2001

Copyright © 2002 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.