Discovery of single nucleotide polymorphisms and mutations by pyrosequencing.
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.
Ronaghi
Mostafa
M
Stanford Genome Technology Center ,855 California Avenue, Palo Alto, CA 94304, USA. mostafa@stanford.edu
Elahi
Elahe
E