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November 13, 2025GenesOpen Access

A Plot Twist: When RNA Yields Unexpected Findings in Paired DNA-RNA Germline Genetic Testing

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Authors

HZHeather ZimmermannTBTerra BrannanCYColin Young

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Overview

Retrospective analysis uncovers unique splicing impacts in gene variants, suggesting RNA testing improves clinical diagnostic accuracy.

Key Points

  • To explore how RNA testing can reveal unexpected splicing events affecting variant interpretation.
  • Retrospective review of data from patients undergoing concurrent DNA and RNA testing.
  • Identified unusual splicing impacts in rare genetic variants.
  • Presented seven rare variants with unique splicing impacts.
  • Highlighted instances such as pseudo-intronization and spliceosome switches.
  • Displayed how certain variants bypassed expected nonsense-mediated decay.

Cite This Study

Zimmermann et al. (2025) studied this question.

synapsesocial.com/papers/692523c6c0ce034ddc354f22https://doi.org/10.3390/genes16111382
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools2025 · 7 citations
  2. 2Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation2021 · 94 citations
  3. 3RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis2024
  4. 4Transcriptome-wide outlier approach identifies individuals with minor spliceopathies2025 · 17 citations
  5. 5Massively Parallel Splicing Assay to Examine Splicing Errors Caused by Disease-Related Intronic Variants.2025