Article

The Evidence Aggregator: AI reasoning applied to rare disease diagnostics

2025-03-13

Abstract excerpt

Variant assessment of rare disease diagnostics depends on using domain knowledge in the time- consuming process of retrieving, reviewing, and synthesizing clinical and technical information. To address these challenges, we developed the Evidence Aggregator (EvAgg), an open-source, generative-AI-based tool designed for rare disease diagnosis that systematically extracts relevant information from the scientific lite...

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Literature Corpus work: 72802416-3c96-5e9d-aeff-5d4756c9c658
DOI: 10.1101/2025.03.10.642480

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