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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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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Mapping actionable pathways and mutations in brain tumours using targeted RNA next generation sequencing.

Krissie Lenting1, Corina N A M van den Heuvel1, Anne van Ewijk2

  • 1Department of Biochemistry, Radboud Institute for Molecular Life Sciences, Geert Grooteplein 26, 6525, GA, Nijmegen, The Netherlands.

Acta Neuropathologica Communications
|November 22, 2019
PubMed
Summary

A new targeted RNA next-generation sequencing (t/RNA-NGS) test identifies active cancer pathways for personalized treatment. This molecular profiling aids oncologists in making more accurate therapy decisions for glioma patients.

Keywords:
DiagnosticsGliomaPathwaysPersonalizedPrognosticsSingle molecule molecular inversion probesTargeted RNA-sequencing

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Area of Science:

  • Oncology
  • Molecular Biology
  • Genomics

Background:

  • Precision cancer medicine faces challenges due to molecular heterogeneity and lack of reliable biomarkers.
  • Targeted therapies are often inaccurate for individual patients because of these limitations.
  • Identifying hyperactive biological pathways in individual tumors is crucial for improving treatment accuracy.

Purpose of the Study:

  • To develop and validate a novel targeted RNA next-generation sequencing (t/RNA-NGS) technique for glioma.
  • To assess the potential of t/RNA-NGS in providing histology-independent molecular diagnoses.
  • To identify actionable molecular aberrations and therapeutic targets for personalized cancer treatment.

Main Methods:

  • Application of a novel targeted RNA next-generation sequencing (t/RNA-NGS) technique to surgically obtained glioma tissues.
  • The t/RNA-NGS test quantifies transcript levels and splice variants of hundreds of genes involved in key cancer pathways.
  • Utilized molecular inversion probes for mutation detection and pathway activity analysis.

Main Results:

  • The t/RNA-NGS technique demonstrated proof of concept, generating histology-independent molecular diagnoses for glioma.
  • Identified molecular classifiers strongly associated with conventional histopathology and patient prognosis.
  • Confirmed known glioma aberrations and discovered novel actionable gene expressions and mutations, suggesting drug repurposing opportunities.

Conclusions:

  • The t/RNA-NGS technique offers a comprehensive molecular profiling approach for individual cancer patients.
  • This method aids in identifying actionable pathways and potential therapeutic targets, improving personalized treatment strategies.
  • The cost-effectiveness of t/RNA-NGS makes it a valuable tool for oncologists in therapy decision-making.