Shapley Regression for Rare Disease Diagnosis Support: a case study on APDS
Activated PI3K8 Syndrome (APDS) is a rare genetic immune disorder caused by variants in PIK3CD or PIK3R1, with highly heterogeneous symptoms that often delay diagnosis. Early recognition is hampered by overlapping clinical presentations and limited clinician awareness, motivating systematic, data-driven approaches to detect APDS-associated phenotypic patterns in routine electronic health records. Traditional linear scoring systems cannot capture complex symptom interactions, while deep learning models, though expressive, often lack interpretability. To bridge this gap, we propose Shapley regression, a novel game-theoretic model replacing the linear predictor with a k-additive cooperative ...
| Authors | Safa Alsaidi, Tomás Brogueira, Nizar Mahlaoui et al. |
|---|---|
| Primary category | cs.LG |
| Published | 9 May 2026 |
| Last updated at source | 9 May 2026 |
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