The Evidence Aggregator: AI reasoning applied to rare disease diagnostics

Genetics in Medicine · Published 2026-05-27 · DOI 10.1016/j.gim.2026.102612

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Authors (15)

Hope Twede, Lynn Pais, Samantha Bryen, Emily O’Heir, Greg Smith, Ron Paulsen, Christina A. Austin-Tse, Alex Bloemendal, Cas Simons, Amanda K. Hall, Scott Saponas, Miah Wander, Daniel G. MacArthur, Heidi L. Rehm, Ashley Mae Conard

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Publication details

Year

2026

Citation

Twede, H., Pais, L., Bryen, S., et al. (2026). The Evidence Aggregator: AI reasoning applied to rare disease diagnostics. Genetics in Medicine. https://doi.org/10.1016/j.gim.2026.102612

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