HPOQuest: A Rare-Disease Diagnostic Agent Using Active Phenotype Acquisition
HPOQuest substantially improves diagnosis from sparse initial phenotypes, with gains of up to 30% points at Recall@1 and 45% points at Recall@5, demonstrating that sequential phenotype acquisition can substantially improve rare-disease diagnosis from limited initial clinical evidence.
Kamilia Zaripova, N. Navab, Azade Farshad et al.
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