Targeted Detection of Single-Nucleotide Variations: Progress and Promise

Abstract

Advances in nucleic acid sequencing and genotyping technologies have facilitated the discovery of an increasing number of single-nucleotide variations (SNVs) associated with disease onset, progression, and response to therapy. The reliable detection of such disease-specific SNVs can ensure timely and effective therapeutic action, enabling precision medicine. This has driven extensive efforts in recent years to develop novel methods for the fast and cost-effective analysis of targeted SNVs. In this Review, we highlight the most recent and significant advances made toward the development of such methodologies.

Keywords: assay development; biosensor; genotyping; point mutation; point-of-care testing; precision medicine; single-nucleotide polymorphism; single-nucleotide variation; specificity.