Tag: functional genomics


  • Torino: Revealing Hidden mRNA Isoforms Driving Disease at ASHG 2025

    Torino: Revealing Hidden mRNA Isoforms Driving Disease at ASHG 2025

    Torino Unveils Hidden Isoforms in Disease-Linked Gene Expression At the ASHG 2025 meeting, researchers from the University of Chicago and Columbia University presented Torino, an innovative computational workflow designed to decode transcript structures and quantify isoform expression directly from read coverage in biobank-scale RNA-seq data. This approach challenges the reliance on pre-existing transcript annotations and…