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arXiv AI By Kamilia Zaripova, Nassir Navab, Azade Farshad, Annalisa Marsico

HPOQuest: A Rare-Disease Diagnostic Agent Using Active Phenotype Acquisition

Read the original on arXiv AI →

HPOQuest is a training‑free framework that improves rare‑disease diagnosis by actively acquiring additional phenotypes. Starting from a few observed patient traits, it maintains a probabilistic ranking of possible diseases and iteratively selects follow‑up questions that are most informative. When clinicians confirm new phenotypes, the disease ranking is updated, and the set of candidate questions is refined, leading to significant gains—up to 30% in Recall@1 and 45% in Recall@5—across four benchmark cohorts.

Machine-generated by The Flow from the publisher's headline and feed description — not written or checked by a human. The full article lives at arXiv AI.

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