Reference-free isoform discovery links unannotated RNA processing to disease risk
Disease-relevant changes in RNA processing frequently evade detection because they are missing from transcript annotations. Here, we introduce Torino, a computational framework that learns patterns of RNA processing directly from population-scale RNA sequencing data by modeling how coverage varies across samples, in datasets spanning tissues, individuals and disease states. Torino adapts…
We haven't written up this one. bioRxiv has the full story — the link below goes straight to it.
