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Deep Agentic Variant Prioritisation for Expert Level Genetic Diagnosis Fast at Scale
2026-02-18
genetic and genomic medicine
Title + abstract only
View on medRxiv
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Genetic diagnosis remains a formidable challenge characterized by a diagnostic odyssey that spans years, with over half of rare disease patients remaining undiagnosed affecting more than 300 million people on earth. Clinicians must navigate through thousands of candidate variants against a noisy and fragmented literature landscape, a task that overwhelms human cognitive capacity and conventional decision-making approaches. Recent advances in agentic artificial intelligence systems have demonstra...
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