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Discovery of single nucleotide polymorphisms and mutations by pyrosequencing
Authors:Ronaghi Mostafa  Elahi Elahe
Affiliation:Stanford Genome Technology Center 855 California Avenue Palo Alto CA 94304 USA.
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:
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