Tag: isoQTLs
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ASHG 2025: Torino Reveals Hidden mRNA Isoforms Driving Disease-Related Gene Expression
Introduction: A New Lens on Gene Expression at ASHG 2025 The ASHG 2025 meeting in Turin spotlighted a transformative approach to understanding how genes express themselves in health and disease. Researchers from the University of Chicago and Columbia University presented Torino, a novel computational workflow that decodes transcript structures and expression levels directly from RNA…
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Torino: Decoding Disease-Linked mRNA Isoforms Directly from Read Coverage
New Tool for Uncovering Hidden RNA Isoforms in Disease Research Researchers at the American Society for Human Genetics (ASHG) Annual Meeting have unveiled Torino, a groundbreaking computational workflow that reads RNA sequencing data in a new way. By leveraging biobank-scale RNA-seq datasets, Torino directly decodes transcript structures and expression levels from read coverage alone, bypassing…