Abstract:Standard evaluations of Large language models (LLMs) focus on task performance, offering limited insight into whether correct behavior reflects appropriate underlying mechanisms and risking confirmation bias. We introduce a simple, principled interpretability framework based on token-level perplexity to test whether models rely on linguistically relevant cues. By comparing perplexity distributions over minimal sentence pairs differing in one or a few `pivotal' tokens, our method enables precise, hypothesis-driven analysis without relying on unstable feature-attribution techniques. Experiments on controlled linguistic benchmarks with several open-weight LLMs show that, while linguistically important tokens influence model behavior, they never fully explain perplexity shifts, revealing that models rely on heuristics other than the expected linguistic ones.




Abstract:We present a machine learning pipeline for biomarker discovery in Multiple Sclerosis (MS), integrating eight publicly available microarray datasets from Peripheral Blood Mononuclear Cells (PBMC). After robust preprocessing we trained an XGBoost classifier optimized via Bayesian search. SHapley Additive exPlanations (SHAP) were used to identify key features for model prediction, indicating thus possible biomarkers. These were compared with genes identified through classical Differential Expression Analysis (DEA). Our comparison revealed both overlapping and unique biomarkers between SHAP and DEA, suggesting complementary strengths. Enrichment analysis confirmed the biological relevance of SHAP-selected genes, linking them to pathways such as sphingolipid signaling, Th1/Th2/Th17 cell differentiation, and Epstein-Barr virus infection all known to be associated with MS. This study highlights the value of combining explainable AI (xAI) with traditional statistical methods to gain deeper insights into disease mechanism.