Article

Clinical Evaluation of an AI System for Streamlined Variant Interpretation in Genetic Testing

2025-02-05

Abstract excerpt

The growing use of genomic sequencing to diagnose hereditary diseases has increased the interpretive workload for clinical laboratories. Efficient methods are needed to maximize diagnostic yield without overwhelming resources. We developed DiagAI, an integrative machine-learning system trained to prioritize and sort causal variants in rare diseases. DiagAI integrates Universal Pathogenicity Predictor (UP 2 ), a ma...

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Literature Corpus work: 4b37ad3e-86f7-5488-bbfa-6ef0cc568b41
DOI: 10.1101/2025.02.04.25321641

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