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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
Published on: August 24, 2017
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Diagnostics based on nucleic acid sequence variant profiling: PCR, hybridization, and NGS approaches
Dmitriy Khodakov1, Chunyan Wang1, David Yu Zhang2
1Department of Bioengineering, Rice University, Houston, TX, United States.
Advanced Drug Delivery Reviews
|April 20, 2016
Summary
Detecting DNA/RNA biomarkers is key for precision medicine. This review covers popular nucleic acid analysis technologies and their clinical diagnostic applications.
Area of Science:
- Biotechnology
- Molecular Diagnostics
- Genomics
Background:
- Nucleic acid sequence variations are linked to numerous diseases.
- Accurate detection and quantification of DNA/RNA biomarkers are crucial for effective therapeutic strategies.
- Advancements in nucleic acid analysis enable precision medicine.
Purpose of the Study:
- To review molecular mechanisms of widely used commercial nucleic acid assays.
- To assess the translation progress of these assays into in vitro diagnostics (IVDs).
Main Methods:
- Classification of nucleic acid analysis technologies into hybridization, PCR, and sequencing.
- Analysis of molecular mechanisms underlying popular commercial assays.
- Evaluation of the clinical translation status of these diagnostic tools.
Main Results:
- Commercial assays utilize hybridization, PCR, and sequencing technologies.
- Significant progress has been made in translating these assays into clinical diagnostics.
- Understanding assay mechanisms is vital for their effective application.
Conclusions:
- Nucleic acid analysis technologies are essential for modern diagnostics.
- The translation of these technologies into IVDs is advancing rapidly.
- Reliable biomarker detection supports personalized treatment approaches.
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