New AI tool identifies not just genetic mutations, but the diseases they may cause
Peer-Reviewed Publication
Updates every hour. Last Updated: 13-Jun-2026 02:16 ET (13-Jun-2026 06:16 GMT/UTC)
Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only identifies disease-causing genetic mutations but also predicts the type of disease those mutations may trigger. The method, called V2P (Variant to Phenotype), is designed to accelerate genetic diagnostics and aid in the discovery of new treatments for complex and rare diseases. The findings were reported in the December 15 online issue of Nature Communications [DOI: 10.1038/s41467-025-66607-w].
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