Variant calling from RNA-Seq data reveals allele-specific differential expression of pathogenic cancer variants

These findings highlight the potential of RNA-Seq not only to uncover clinically relevant genetic variants but also to offer a deeper understanding of disease-specific expression dynamics that influence cancer pathogenesis, with implications for prognosis and therapeutic strategies.

Authors

Audrey Bollas
Elaine R. Mardis (ORCID: https://orcid.org/0000-0002-5892-1553)
Jeffrey Gaither
Kathleen M. Schieffer (ORCID: https://orcid.org/0000-0002-2688-8680)
Peter White (ORCID: https://orcid.org/0000-0002-5218-5903)

Institutions

Nationwide Children's Hospital (US)
The Ohio State University (US)

Publication Details

Journal: Communications Medicine
Published: 2025-05-28
DOI: https://doi.org/10.1038/s43856-025-00901-y
Citations: 2
Primary Topic: RNA and protein synthesis mechanisms
Type: article
Field-Weighted Citation Impact: 1.61

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article

Variant calling from RNA-Seq data reveals allele-specific differential expression of pathogenic cancer variants

Audrey Bollas, Elaine R. Mardis, Jeffrey Gaither, Kathleen M. Schieffer et al.

May 28, 2025

2 citations

Communications Medicine

RNA and protein synthesis mechanisms

1.61

article

Variant calling from RNA-Seq data reveals allele-specific differential expression of pathogenic cancer variants

Audrey Bollas, Elaine R. Mardis, Jeffrey Gaither, Kathleen M. Schieffer, Peter White

May 28, 2025article en

2 citations

Abstract

These findings highlight the potential of RNA-Seq not only to uncover clinically relevant genetic variants but also to offer a deeper understanding of disease-specific expression dynamics that influence cancer pathogenesis, with implications for prognosis and therapeutic strategies.

Communications MedicineVol. 5(1)

Nationwide Children's Hospital (US), The Ohio State University (US)

Good health and well-being

Openalex Percentile: Top 17%

RNA and protein synthesis mechanisms

1.61

DOI Open Access PDF OpenAlex

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