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Updated: Jan 2, 2026
10:36
Rare Event Detection Using Error-corrected DNA and RNA Sequencing
Published on: August 3, 2018
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Clinical Massively Parallel Sequencing.
1Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC.
Clinical Chemistry
|December 8, 2019
Summary
Massively parallel sequencing (MPS) technologies have rapidly advanced, enabling comprehensive genomic analysis. These DNA sequencing innovations are transforming clinical practice and diagnostics.
Area of Science:
- Genomics
- Molecular Biology
- Clinical Diagnostics
Background:
- Massively parallel sequencing (MPS) technologies have seen exponential growth since 2006, increasing output from megabases to terabases.
- First-generation MPS amplifies DNA, while second-generation MPS sequences single molecules for longer reads.
- MPS enables analysis of genomes, exomes, gene panels, transcriptomes, and methylation patterns.
Purpose of the Study:
- To discuss major first- and second-generation MPS platforms.
- To outline the clinical applications of MPS technologies.
Main Methods:
- Review of existing first- and second-generation massively parallel sequencing platforms.
- Analysis of current and emerging clinical uses of MPS.
Main Results:
- MPS platforms now offer terabase-scale DNA sequencing capabilities.
- Targeted gene panel sequencing is the predominant clinical application, with whole-genome sequencing poised for wider adoption.
- Emerging applications include metagenomics and genome-wide methylation analysis.
Conclusions:
- The dramatic increase in MPS output will revolutionize clinical DNA sequencing.
- Cost reductions in genome sequencing will likely shift clinical practice towards whole-genome analysis.
- MPS technologies are fundamentally transforming clinical practice and diagnostics.
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