ArticleBMC medical genomics2022
Ultra-sensitive molecular detection of gene fusions from RNA using ASPYRE.
Article in BMC medical genomics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 7 citations in OpenAlex.
- Successful simplified genomic profiling of cytology specimens using Aspyre Clinical Test for Lung (Tissue).Cancer cytopathology · 2026Article
- Harmonization trial ofPathologica · 2025Article
- Development of a Machine Learning Model for Aspyre Lung Blood: A New Assay for Rapid Detection of Actionable Variants From Plasma in Patients With Non-Small Cell Lung Cancer.JCO clinical cancer informatics · 2025Article
- The role and mechanism of CHMP4C in poor prognosis and drug sensitivity of lung adenocarcinoma.Discover oncology · 2025Article
- Evaluation of the ASPYRE-Lung targeted variant panel: a rapid, low-input solution for non-small cell lung cancer biomarker testing and experience from three independent sites.Translational lung cancer research · 2024Article
- ASPYRE-Lung: validation of a simple, fast, robust and novel method for multi-variant genomic analysis of actionable NSCLC variants in FFPE tissue.Frontiers in oncology · 2024Article
Corrections and comments
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Authors and funding
16 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRNA is a critical analyte for unambiguous detection of actionable mutations used to guide treatment decisions in oncology. Currently available methods for gene fusion detection include molecular or antibody-based assays, which suffer from either being limited to single-gene targeting, lack of sensitivity, or long turnaround time. The sensitivity and predictive value of next generation sequencing DNA-based assays to detect fusions by sequencing intronic regions is variable, due to the extensive size of introns. The required depth of sequencing and input nucleic acid required can be prohibitive; in addition it is not certain that predicted gene fusions are actually expressed.
resultsHerein we describe a method based on pyrophosphorolysis to include detection of gene fusions from RNA, with identical assay steps and conditions to detect somatic mutations in DNA [1], permitting concurrent assessment of DNA and RNA in a single instrument run.
conclusionThe limit of detection was under 6 molecules/ 6 µL target volume. The workflow and instrumentation required are akin to PCR assays, and the entire assay from extracted nucleic acid to sample analysis can be completed within a single day.
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