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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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Updated: Jun 8, 2025

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

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Published on: September 8, 2023

Actionable Structural Variant Detection via RNA-NGS and DNA-NGS in Patients With Advanced Non-Small Cell Lung Cancer.

Dwight Owen¹, Rotem Ben-Shachar², Josephine Feliciano³

¹Ohio State University School of Medicine, Columbus.

JAMA Network Open

|November 4, 2024

Summary

RNA next-generation sequencing (NGS) combined with DNA-NGS detects more actionable structural variants in advanced non-small cell lung cancer (NSCLC) than DNA-NGS alone. Routine RNA-NGS implementation is suggested for improved NSCLC care.

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Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay

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Published on: August 14, 2018

Area of Science:

Oncology
Genomics
Molecular Diagnostics

Background:

National Comprehensive Cancer Network (NCCN) guidelines suggest RNA next-generation sequencing (NGS) may enhance detection of fusions and splicing variants in non-small cell lung cancer (NSCLC).
Despite recommendations, RNA-NGS adoption in routine oncology clinical care remains limited.

Purpose of the Study:

To compare the detection of NCCN-recommended actionable structural variants (aSVs) using concurrent DNA and RNA-NGS versus DNA-NGS alone in advanced lung adenocarcinoma.
To analyze clinical evidence from a diverse patient cohort with advanced lung adenocarcinoma.

Main Methods:

A multisite, retrospective cohort study of 5570 patients with advanced lung adenocarcinoma.
Analysis of linked molecular and clinical data from the Tempus multimodal database (February 2021 - October 2023).
Concurrent DNA and RNA-NGS solid-tissue profiling assays were performed.

Main Results:

Concurrent RNA-NGS and DNA-NGS identified 15.3% more patients with aSVs compared to DNA-NGS alone.
This included a 14.3% increase in actionable fusions and an 18.6% increase in MET exon 14 skipping alterations.
Emerging structural variants (eSVs) showed a 0.7% prevalence, with DNA-NGS alone detecting only 47.5% of them.

Conclusions:

Concurrent RNA-NGS and DNA-NGS demonstrate superior detection rates for multiple NCCN-recommended biomarkers in advanced NSCLC.
The findings support the routine implementation of RNA-NGS in the clinical care of advanced NSCLC patients for comprehensive variant detection.