Author

Jia Yang

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Jul 2026

GraphRareBench: An Auditable Graph-Evidence Benchmark for Phenotype-Driven Rare-Disease Diagnosis

Results indicate that full-pool retrieval, hard-confounder discrimination, and observable evidence access capture complementary aspects of model behavior, which provides a foundation for more transparent and evidence-aware evaluation of phenotype-driven diagnostic systems.

Guiling Guo, Jia Yang, Jia-Hao Xu et al. · arXiv.org · 0 citations