title: Diagnostics based on nucleic acid sequence variant profiling: PCR, hybridization, and NGS approaches.
abstract: Nucleic 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.
authors.affiliation: Department of Bioengineering, Rice University, Houston, TX, United States.
authors.forename: Dmitriy
authors.initials: D
authors.lastname: Khodakov
authors.affiliation: Department of Bioengineering, Rice University, Houston, TX, United States.
authors.forename: Chunyan
authors.initials: C
authors.lastname: Wang
authors.affiliation: Department of Bioengineering, Rice University, Houston, TX, United States; Department of Systems, Synthetic, and Physical Biology, Rice University, Houston, TX, United States. Electronic address: dyz1@rice.edu.
authors.forename: David Yu
authors.initials: DY
authors.lastname: Zhang
mesh_terms: D006801:Humans; D006824:Hybridization, Genetic; D025202:Molecular Diagnostic Techniques; D009696:Nucleic Acids / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017421:Sequence Analysis
chemical_list: D009696:Nucleic Acids
keywords: Hybridization; Molecular diagnostics; Next-generation sequencing; Nucleic acid tests; PCR