G.AI: an AI-driven platform for phenotype standardization, variant interpretation and structured clinical reporting in rare disease genomic diagnosis.

Abstract excerpt

BACKGROUND: The diagnosis of rare diseases increasingly relies on the interpretation of high-throughput next-generation sequencing (NGS) data. As sequencing volume expands, the analytical burden grows substantially, and manual workflows become increasingly difficult to scale and prone to inconsistency. To address these challenges, we developed G.AI, an interpretable and traceable artificial intelligence...

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