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Genetic variants affecting RNA stability influence complex traits and disease risk II

GSE298114 Homo sapiens Expression profiling by high throughput sequencing 6 samples Submitted 2025/05/27 Platform GPL21290
Summary
Gene expression is jointly modulated by transcriptional regulation and mRNA stability, yet the latter is often overlooked in studies on genetic variants. Leveraging metabolic labeling data (Bru/BruChase-seq) and a new computational pipeline, RNAtracker, we distinguished allele-specific RNA stability (asRS) from allele-specific RNA transcription (asRT) events. Our analysis identified >5,000 asRS variants, revealing comparable impact of stability on allelic imbalance as transcriptional regulation. This study highlights RNA stability as a critical, yet understudied mechanism linking genetic variation and disease.
Published in
Genetic variants affecting RNA stability influence complex traits and disease risk
Huang E, Fu T, Zhang L et al. · Nature genetics 2025 · PMID 40913182 · doi:10.1038/s41588-025-02326-8
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Also filed as BioProject PRJNA1268366 and SRA study SRP588446. Searching any of these in the dataset finder brings you back here.

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