Dynamic chemistry for enzyme-free allele discrimination in genotyping by MALDI-TOF mass spectrometry

Abstract Single nucleotide polymorphisms (SNPs) and insertions/deletions (indels) constitute important sources of genetic variation which provide insight into disease origins and differences in drug responses. The analysis of such genetic variation relies upon the generation of allele-specific products, typically by enzymatic extension or alternatively by the hybridization of DNA probes. MALDI-TOF mass spectrometry (MS) has been widely used as a read-out…