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Automation of molecular-based analyses: a primer on massively parallel sequencing
1Pathology North, NSW Health Pathology Service, Royal North Shore Hospital, St Leonards, NSW 2065, Australia;
The Clinical Biochemist. Reviews
|October 23, 2014
Summary
Massively parallel sequencing (MPS), also known as next-generation sequencing, has revolutionized genetics by reducing costs and time. Despite its widespread use in research and clinics, challenges in data analysis and ethical considerations remain.
Area of Science:
- Genetics
- Genomics
- Biotechnology
Background:
- Massively parallel sequencing (MPS) represents a significant advancement in genetic sequencing technology.
- MPS enables the parallel sequencing of millions of DNA fragments, drastically reducing costs and time.
- Various MPS platforms are utilized, sharing a common workflow despite technological differences.
Purpose of the Study:
- To review the current state and applications of massively parallel sequencing (MPS) in genetics.
- To highlight the impact of MPS on research, translational studies, and clinical diagnostics.
- To identify the ongoing challenges and ethical considerations associated with MPS.
Main Methods:
- Review of current massively parallel sequencing (MPS) platforms and their underlying technologies.
- Description of the common MPS workflow: fragmentation, adaptor ligation, immobilization, amplification, sequencing, and data analysis.
- Examination of MPS applications in whole genome, whole exome, and targeted gene sequencing.
Main Results:
- MPS has led to decreased costs and time for genetic sequencing.
- Applications span disease-causing gene discovery, genetic diagnosis, and cancer therapy.
- MPS is increasingly adopted in research, translational, and clinical settings.
Conclusions:
- Massively parallel sequencing (MPS) is a transformative technology in genetics with broad applications.
- Significant challenges persist, particularly in bioinformatics for data analysis and interpretation.
- Ethical issues, such as incidental findings, require careful consideration with the expanding use of MPS.
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