Article
The Evidence Aggregator: AI reasoning applied to rare disease diagnostics.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2026
Twede Hope, Pais Lynn, Bryen Samantha, O'Heir Emily, Smith Greg, Paulsen Ron, Austin-Tse Christina A, Bloemendal Alex, Simons Cas, Hall Amanda K, Saponas Scott, Wander Miah, MacArthur Daniel G, Rehm Heidi L, Conard Ashley Mae
Abstract excerpt
PURPOSE: Variant assessment in rare disease (RD) diagnostics depends on using domain knowledge in the time-intensive process of retrieving, reviewing, and synthesizing clinical and technical information. METHODS: To address these challenges, we developed the Evidence Aggregator (EvAgg), an open-source, generative artificial intelligence-based tool designed to support RD diagnosis that systematically extracts...
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