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Updated: Dec 20, 2025
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
34.5K
The third generation sequencing: the advanced approach to genetic diseases
Tiantian Xiao1,2, Wenhao Zhou1,3,4
1Clinic of Neonatology, Children's Hospital of Fudan University, Shanghai 201102, China.
Translational Pediatrics
|June 2, 2020
Summary
Third generation sequencing (TGS) advances genetic disease diagnosis. This technology offers real-time, single-molecule insights, improving accuracy and paving the way for new research and therapies.
Area of Science:
- Genomics
- Molecular Biology
- Medical Genetics
Background:
- Genomic sequencing technologies have transformed mutation detection for genetic diseases.
- Third generation sequencing (TGS) offers real-time, single-molecule analysis, providing deeper insights into genetic disorders.
Purpose of the Study:
- To review the history of genomic sequencing.
- To focus on genetic diseases identified using TGS and its clinical impact.
- To discuss bioinformatic analysis improvements and limitations of TGS.
Main Methods:
- Literature review of genomic sequencing technologies.
- Analysis of studies reporting genetic diseases discovered via TGS.
- Examination of advancements in TGS bioinformatic pipelines.
Main Results:
- TGS has significantly enhanced the diagnostic accuracy of genetic diseases at the molecular level.
- New genetic diseases have been identified and characterized using TGS.
- Clinical applications and therapeutic strategies are emerging from TGS findings.
Conclusions:
- TGS represents a major advancement in understanding and diagnosing genetic diseases.
- Improvements in bioinformatic analysis are crucial for maximizing TGS potential.
- TGS is paving new avenues for fundamental research and novel therapeutic interventions.
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