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Adv Drug Deliv Rev. 2016 Oct 1;105(Pt A):3-19. doi: 10.1016/j.addr.2016.04.005. Epub 2016 Apr 16.

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

Author information

1
Department of Bioengineering, Rice University, Houston, TX, United States.
2
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.

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.

KEYWORDS:

Hybridization; Molecular diagnostics; Next-generation sequencing; Nucleic acid tests; PCR

PMID:
27089811
DOI:
10.1016/j.addr.2016.04.005
[Indexed for MEDLINE]
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