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Policy Split: Incentivizing Dual-Mode Exploration in LLM Reinforcement with Dual-Mode Entropy Regularization METER: Evaluating Multi-Level Contextual Causal Reasoning in Large Language Models Think Before you Write: QA-Guided Reasoning for Character Descriptions in Books METRO: Towards Strategy Induction from Expert Dialogue Transcripts for Non-collaborative Dialogues Retrieval as Generation: A Unified Framework with Self-Triggered Information Planning Do LLMs Know Tool Irrelevance? Demystifying Structural Alignment Bias in Tool Invocations Enhancing Multimodal Large Language Models for Ancient Chinese Character Evolution Analysis via Glyph-Driven Fine-Tuning Exploring Knowledge Conflicts for Faithful LLM Reasoning: Benchmark and Method CocoaBench: Evaluating Unified Digital Agents in the Wild MathAgent: Adversarial Evolution of Constraint Graphs for Mathematical Reasoning Data Synthesis Efficient Training for Cross-lingual Speech Language Models Shared Emotion Geometry Across Small Language Models: A Cross-Architecture Study of Representation, Behavior, and Methodological Confounds A Systematic Analysis of the Impact of Persona Steering on LLM Capabilities Uncertainty-Aware Web-Conditioned Scientific Fact-Checking When Valid Signals Fail: Regime Boundaries Between LLM Features and RL Trading Policies When Verification Fails: How Compositionally Infeasible Claims Escape Rejection Mem$^2$Evolve: Towards Self-Evolving Agents via Co-Evolutionary Capability Expansion and Experience Distillation AOP-Smart: A RAG-Enhanced Large Language Model Framework for Adverse Outcome Pathway Analysis Advancing Polish Language Modeling through Tokenizer Optimization in the Bielik v3 7B and 11B Series TInR: Exploring Tool-Internalized Reasoning in Large Language Models Do BERT Embeddings Encode Narrative Dimensions? A Token-Level Probing Analysis of Time, Space, Causality, and Character in Fiction Generating Multiple-Choice Knowledge Questions with Interpretable Difficulty Estimation using Knowledge Graphs and Large Language Models Deep-Reporter: Deep Research for Grounded Multimodal Long-Form Generation Too Nice to Tell the Truth: Quantifying Agreeableness-Driven Sycophancy in Role-Playing Language Models Learning and Enforcing Context-Sensitive Control for LLMs Efficient Process Reward Modeling via Contrastive Mutual Information Computational Lesions in Multilingual Language Models Separate Shared and Language-specific Brain Alignment Bridging Linguistic Gaps: Cross-Lingual Mapping in Pre-Training and Dataset for Enhanced Multilingual LLM Performance Early Decisions Matter: Proximity Bias and Initial Trajectory Shaping in Non-Autoregressive Diffusion Language Models LLMs Should Incorporate Explicit Mechanisms for Human Empathy
Shapley Regression for Rare Disease Diagnosis Support: a ...
Safa Alsaidi, Tomás Brogueira, Nizar Mahlaoui, Marc Vincent, Gui · 2026-05-09 · via cs.AI updates on arXiv.org

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 game, explicitly modeling co-occurrence of symptoms while maintaining the transparency and convexity of logistic regression. We carry out an empirical study of our lightweight method on eight public biomedical datasets, showing that a 2-additive model with $l_{2}$ regularization achieves an optimal trade-off between predictive power and noise robustness. We also apply it to a real-world cohort of 222 patients, on which Shapley regression accurately distinguished APDS cases from matched controls, confirming and validating phenotypes known to be associated with APDS, and facilitating the exploration of pairwise interactions between symptoms, validated by clinical experts.