bioRxivJClub
Deep transcriptomic analysis of molecular mediators of complex traits in heterogeneous stock (HS) rats
bioRxiv · · Preprint · Open access
Munro, Nguyen + 36 more
Abstract ↗AI summary
The abstract is read at the publisher; the summary is JClub's.
RatGTEx expanded to 3,160 RNA-seq samples across 13 tissues, enabling 144,876 independent QTL for 22,599 genes and 7,473 significant gene–trait associations.
- Why it matters: Post-GWAS interpretation in HS rats has been limited by scarce functional genomics resources, constraining how genomic signals can be linked to molecular mechanisms.
- What they did: The team quantified six transcriptome regulation modalities with Pantry in 3,160 RNA-seq samples, then ran TWAS using FUSION across 19,796 genes, 308 traits, and 14 studies.
- The result: The resulting gene-to-phenotype links across expression, isoforms, TSS, poly(A), intron excision, and RNA stability provide evidence for molecular mediators of GWAS signals and support follow-up targeting.
The findingWhy it mattersWhat they didThe result
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