Diagnostics based on nucleic acid sequence variant profiling: PCR, hybridization, and NGS approaches

Khodakov, DmitriyWang, ChunyanZhang, David Yu2017-01-272017-01-272016Khodakov, Dmitriy, Wang, Chunyan and Zhang, David Yu. "Diagnostics based on nucleic acid sequence variant profiling: PCR, hybridization, and NGS approaches." <i>Advanced Drug Delivery Reviews,</i> 105, Part A, (2016) Elsevier: 3-19. http://dx.doi.org/10.1016/j.addr.2016.04.005.https://hdl.handle.net/1911/93798Nucleic acid sequence variations have been implicated in many diseases, and reliable detection and quantitation of DNA/RNA biomarkers can inform effective therapeutic action, enabling precision medicine. Nucleic acid analysis technologies being translated into the clinic can broadly be classified into hybridization, PCR, and sequencing, as well as their combinations. Here we review the molecular mechanisms of popular commercial assays, and their progress in translation into in vitro diagnostics.engThis is an open access article under the CC BY-NC-ND licenseDiagnostics based on nucleic acid sequence variant profiling: PCR, hybridization, and NGS approachesJournal articlemolecular diagnosticsnucleic acid testsPCRhybridizationnext-generation sequencinghttp://dx.doi.org/10.1016/j.addr.2016.04.005