ASHG 2025 spotlights Torino, a groundbreaking computational workflow that is reshaping how researchers analyze disease-linked gene expression. Torino leverages large-scale RNA-seq datasets from global biobanks, enabling the decoding of complex transcript structures and quantifying expression levels using only read coverage data. This innovative approach allows scientists to pinpoint specific mRNA isoforms that play critical roles in health and disease.
Revolutionizing Disease Genomics with Torino
Traditional RNA sequencing analyses often struggle with the vast complexity of transcriptomes. Torino changes the game by efficiently extracting high-resolution information on mRNA isoforms, even from enormous datasets. Researchers can now uncover subtle, disease-associated gene expression patterns that were previously missed. This capability could pave the way for new diagnostics and personalized therapies targeting specific RNA isoforms.
Biobank-Scale Insights for Future Medicine
Torino’s application to biobank-scale data opens new frontiers in biomedical research. By simplifying transcriptome analysis, Torino empowers scientists to interpret genetic variations and their impact on disease at an unprecedented scale. The implications reach far beyond basic science, offering hope for the rapid development of precision medicine strategies.
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