Discovery of single nucleotide polymorphisms and mutations by Pyrosequencing
Open Access
- 15 February 2002
- journal article
- website
- Published by Wiley in Comparative and Functional Genomics
- Vol. 3 (1) , 51-56
- https://doi.org/10.1002/cfg.132
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.Keywords
Funding Information
- National Institutes of Health (2P0I HG00205)
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