‘Other’ applications of single nucleotide polymorphisms

Single nucleotide polymorphisms (SNPs) are the most frequent form of sequence variation in the human genome, occurring on average every 300 base pairs. Owing to their high density, SNPs are considered useful for identifying the genes associated with complex diseases. The focus of this Opinion article is the recent applications of SNPs that fall outside of disease association studies. These applications are diverse, ranging from using SNPs as qualitative markers for distinguishing individuals in mixed samples to using SNPs for quantitative genomic DNA and RNA transcript dosage assessment. These are possible owing to the millions of validated SNPs and the variety of robust SNP analysis platforms.