Single nucleotide polymorphisms: discovery, detection and analysis

Abstract

Single nucleotide polymorphisms (SNPs) are the most abundant and simple form of DNA variation. Analyses of SNPs in the human population have the potential to greatly improve human health, both by predicting susceptibility to disease and guiding choice of therapy. This review describes new tools for SNP discovery, and current and emerging technologies for large-scale SNP analysis, as well as providing a guide to choosing the best approach for SNP analysis.