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Related Concept Videos

RNA-seq03:21

RNA-seq

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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: May 20, 2025

Targeted RNA Sequencing Assay to Characterize Gene Expression and Genomic Alterations
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Comparison of Targeted RNA-Sequencing Platforms for Oncogenic Fusion Detection in Non-Small-Cell Lung Cancer.

Alicia Dillard1, Kemin Xu1, Yichao Sun1

  • 1Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, New York.

The Journal of Molecular Diagnostics : JMD
|March 23, 2025
PubMed
Summary

Adding reflex RNA sequencing improves detection of rare oncogenic fusions in non-small cell lung carcinoma (NSCLC). This approach maximizes patient eligibility for targeted therapies and clinical trials by identifying actionable drivers.

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

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Area of Science:

  • Oncology
  • Molecular Diagnostics
  • Genomics

Background:

  • Oncogenic fusion detection is crucial for non-small cell lung carcinoma (NSCLC) diagnosis and treatment.
  • RNA sequencing is a prominent method, but diverse assays have varying performance.
  • A single-institution algorithm using amplicon-based DNA/RNA sequencing followed by reflex hybridization-capture RNA sequencing was evaluated.

Purpose of the Study:

  • To report clinical experience with a novel testing algorithm for NSCLC.
  • To assess the utility of reflex hybridization-capture RNA sequencing for detecting oncogenic fusions.
  • To determine if this algorithm improves the identification of actionable molecular targets.

Main Methods:

  • A total of 1211 NSCLC specimens were tested.
  • An initial amplicon-based DNA/RNA sequencing was performed.
  • Hybridization-capture-based RNA sequencing was used reflexively for cases negative for drivers.

Main Results:

  • 120 cases (10%) were reflexed for RNA sequencing.
  • Nine clinically actionable oncogenic fusions (ALK, BRAF, NRG1, NTRK3, ROS1, RET) were identified.
  • None of these fusions were detected by the initial amplicon-based assay.

Conclusions:

  • Reflex hybridization-capture RNA sequencing enhances the detection of rare and novel oncogenic fusions in NSCLC.
  • This comprehensive approach expands patient eligibility for targeted therapies and clinical trials.
  • The algorithm offers improved molecular profiling for personalized cancer treatment.