Article ID Journal Published Year Pages File Type
1946717 Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms 2011 23 Pages PDF
Abstract

This article presents an overview of new emerging approaches for nucleic acid detection via hybridization techniques that can potentially be applied to genomic analysis and SNP identification in clinical diagnostics. Despite the availability of a diverse variety of SNP genotyping technologies on the diagnostic market, none has truly succeeded in dominating its competitors thus far. Having been designed for specific diagnostic purposes or clinical applications, each of the existing bio-assay systems (briefly outlined here) is usually limited to a relatively narrow aspect or format of nucleic acid detection, and thus cannot entirely satisfy all the varieties of commercial requirements and clinical demands. This drives the diagnostic sector to pursue novel, cost-effective approaches to ensure rapid and reliable identification of pathogenic or hereditary human diseases. Hence, the purpose of this review is to highlight some new strategic directions in DNA detection technologies in order to inspire development of novel molecular diagnostic tools and bio-assay systems with superior reliability, reproducibility, robustness, accuracy and sensitivity at lower assay cost. One approach to improving the sensitivity of an assay to confidently discriminate between single point mutations is based on the use of target assembled, split-probe systems, which constitutes the main focus of this review.

Graphical AbstractFigure optionsDownload full-size imageDownload high-quality image (257 K)Download as PowerPoint slideResearch Highlights► Diagnostic sector requires rapid and reliable approaches for disease identification. ► None of the existing genotyping methods has succeeded in dominating its competitors. ► Advances in new diagnostic strategies often cause undesirable technological issues. ► The goal is to deliver clinical and commercial benefits without associated problems. ► The success will rely on clever combinations of emerging genotyping technologies.

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