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Updated: Jul 3, 2025
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
33.8K
RNA Sequencing in Disease Diagnosis.
Craig Smail1, Stephen B Montgomery2
1Genomic Medicine Center, Children's Mercy Research Institute, Children's Mercy Kansas City, Kansas City, Missouri, USA;
Annual Review of Genomics and Human Genetics
|February 15, 2024
Summary
RNA sequencing (RNA-seq) is a powerful tool for understanding disease by measuring gene activity. New technologies and large datasets are improving its use in diagnosing diseases and finding genetic causes.
Area of Science:
- Genomics and Molecular Biology
- Bioinformatics and Computational Biology
Background:
- RNA sequencing (RNA-seq) is crucial for transcriptomic phenotype measurement and modeling disease variant impacts.
- Technological advancements enhance RNA-seq applications for biomarker discovery, tissue-specific effects, and disease mechanism localization.
Purpose of the Study:
- To highlight the expanding utility of RNA sequencing (RNA-seq) in disease research.
- To emphasize the role of large-scale transcriptomic data and advanced analysis in disease diagnosis.
Main Methods:
- Utilizing advances in RNA sequencing technologies, experimental protocols, and analysis strategies.
- Leveraging biobank-scale transcriptomic repositories with matched genomic data.
- Employing improved computational analysis pipelines for phenotype detection.
Main Results:
- RNA-seq effectively identifies disease biomarkers and tissue/cell-type-specific impacts.
- Large-scale transcriptomic resources facilitate the detection of aberrant phenotypes in rare diseases.
- Improved analysis pipelines enhance the resolution of disease origins and causal gene contributions.
Conclusions:
- RNA sequencing is increasingly vital for disease diagnosis and understanding disease mechanisms.
- The integration of large-scale transcriptomic and genomic data offers unprecedented insights into disease.
- Continued expansion of transcriptomic resources will further advance biomedical research and diagnostics.
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