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Gene expression is the fundamental level at which the results of various genetic and regulatory programs are observable. The measurement of transcriptome-wide gene expression has convincingly switched from microarrays to sequencing in a matter of years. RNA sequencing (RNA-seq) provides a quantitative and open system for profiling transcriptional outcomes on a large scale and therefore facilitates a large diversity of applications, including basic science studies, but also agricultural or clinical situations. In the past 10 years or so, much has been learned about the characteristics of the RNA-seq data sets, as well as the performance of the myriad of methods developed. In this review, we give an overview of the developments in RNA-seq data analysis, including experimental design, with an explicit focus on the quantification of gene expression and statistical approachesfor differential expression. We also highlight emerging data types, such as single-cell RNA-seq and gene expression profiling using long-read technologies.
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This content will become publicly available on January 12, 2026
Exploring RNA-Seq Data Analysis Through Visualization Techniques and Tools: A Systematic Review of Opportunities and Limitations for Clinical Applications
RNA sequencing (RNA-seq) has emerged as a prominent resource for transcriptomic analysis due to its ability to measure gene expression in a highly sensitive and accurate manner. With the increasing availability of RNA-seq data analysis from clinical studies and patient samples, the development of effective visualization tools for RNA-seq analysis has become increasingly important to help clinicians and biomedical researchers better understand the complex patterns of gene expression associated with health and disease. This review aims to outline the current state-of-the-art data visualization techniques and tools commonly used to frame clinical inferences from RNA-seq data and point out their benefits, applications, and limitations. A systematic review of English articles using PubMed, Scopus, Web of Science, and IEEE Xplore databases was performed. Search terms included “RNA-seq”, “visualization”, “plots”, and “clinical”. Only full-text studies reported between 2017 and 2024 were included for analysis. Following PRISMA guidelines, a total of 126 studies were identified, of which 33 studies met the inclusion criteria. We found that 18% of studies have visualization techniques and tools for circular RNA-seq data, 56% for single-cell RNA-seq data, 23% for bulk RNA-seq data, and 3% for long non-coding RNA-seq data. Overall, this review provides a comprehensive overview of the common visualization tools and their potential applications, which is a useful resource for researchers and clinicians interested in using RNA-seq data for various clinical purposes (e.g., diagnosis or prognosis).
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- Award ID(s):
- 2334391
- PAR ID:
- 10570733
- Publisher / Repository:
- MDPI
- Date Published:
- Journal Name:
- Bioengineering
- Volume:
- 12
- Issue:
- 1
- ISSN:
- 2306-5354
- Page Range / eLocation ID:
- 56
- Format(s):
- Medium: X
- Sponsoring Org:
- National Science Foundation
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