A Reasoning Model Reread 376 Unsolved Rare Disease Genomes at Boston Children’s & Surfaced 18 New Diagnoses: What the 4.8% Yield Means, and Why the Real Prize Is Reanalysis as Standing Infrastructure

Boston Children’s ran a reasoning AI model over 376 unsolved rare disease genomes. Result: 18 new diagnoses. 4.8% yield on cases already declared unsolvable. That number is more interesting than it looks.

The cohort breakdown matters. Neurodevelopmental cases: 10 diagnoses out of 100, a 10% hit rate. Sudden unexpected death in pediatrics: 2 out of 200, j…