Reference-free isoform discovery links unannotated RNA processing to disease risk
Carlos F. Buen Abad Najar, Dongyue Xie, Ru Feng, Peter S. Carbonetto, Xuewei Cao, Houcheng Li, Lingzhao Fang, Gao T. Wang, Matthew Stephens, Yang Li
Torino, a reference-free framework for isoform discovery, identifies RNA processing patterns linked to disease risk by analyzing read coverage variation across species and disease states.
bioRxiv · Oct 23, 2026 · PreprintBioinformatics