Open AccessDiscovery of single nucleotide polymorphisms and mutations by Pyrosequencing
Author(s) -
Ronaghi Mostafa,
Elahi Elahe
Publication year - 2002
Publication title -
comparative and functional genomics
Language(s) - English
Resource type - Journals
eISSN - 1532-6268
pISSN - 1531-6912
DOI - 10.1002/cfg.132
Subject(s) - pyrosequencing , genomics , genetics , computational biology , dna sequencing , biology , single nucleotide polymorphism , haplotype , genome , mutation , dna , gene , genotype
Abstract Comparative genomics, analyzing variation among individual genomes, isan area of intense investigation. DNA sequencing is usually employed to lookfor polymorphisms and mutations. Pyrosequencing, a real‐time DNA sequencingmethod, is emerging as a popular platform for comparative genomics. Here wereview the use of this technology for mutation scanning, polymorphism discoveryand chemical haplotyping. We describe the methodology and accuracy of thistechnique and discuss how to reduce the cost for large‐scale analysis. Copyright © 2002 John Wiley & Sons, Ltd.