Transcriptomics

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


ABSTRACT: 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.

ORGANISM(S): Homo sapiens

PROVIDER: GSE298114 | GEO | 2025/05/27

REPOSITORIES: GEO

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