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RNA-seq

RNA-seq

RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases.
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...

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Related Experiment Video

Updated: Jan 15, 2026

Targeted RNA Sequencing Assay to Characterize Gene Expression and Genomic Alterations

Targeted RNA Sequencing Assay to Characterize Gene Expression and Genomic Alterations

Published on: August 4, 2016

Small Nucleotide Variant Analysis Using RNA Fusion Panel (SMURF): Making the Most of RNAseq Data in Solid Tumours.

Pranav Dorwal^1,2, Julie Robin¹, Broden Krause¹

¹Monash Health, Clayton, Victoria, Australia.

Journal of Clinical Laboratory Analysis

|January 14, 2026

Summary

RNA fusion panels can identify small nucleotide variants, enhancing their utility. This analysis confirms that RNA sequencing data from fusion panels reliably detects variants in key genes like GNAS and CTNNB1.

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Last Updated: Jan 15, 2026

Targeted RNA Sequencing Assay to Characterize Gene Expression and Genomic Alterations

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Published on: August 4, 2016

Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer

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Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing

Published on: July 5, 2019

Area of Science:

Oncology
Genomics
Molecular Biology

Background:

RNA-based fusion panels are standard for detecting gene rearrangements in tumors using next-generation sequencing.
Bioinformatic analysis of RNA sequencing (RNA-Seq) data enables small nucleotide variant detection (single nucleotide variants and indels).

Purpose of the Study:

To evaluate the performance of Small nucleotide variant analysis Using RNA Fusion panel (SMURF) analysis on RNA-Seq data.
To compare SMURF analysis with dedicated DNA-based panels for variant detection.

Main Methods:

Applied SMURF analysis to RNA-Seq data generated from an RNA-based fusion panel.
Compared the performance characteristics of SMURF analysis against a DNA-based panel.

Main Results:

RNA fusion panels can be enhanced for small nucleotide variant identification, increasing their diagnostic utility.
Gene expression variability resulted in uneven coverage depth, but specific genes (GNAS, GNAQ, NRAS, CTNNB1) showed consistent, suitable coverage for variant detection.

Conclusions:

RNA-Seq data from RNA-based fusion panels can confidently identify variants in genes like GNAS, GNAQ, NRAS, and CTNNB1.
This approach maximizes the utility of RNA fusion panels by enabling simultaneous detection of fusions and small nucleotide variants.