bioRxiv Science⌕ Search

Biology subjects

Smyrnakis, M.

Publications and source records attributed to Smyrnakis, M..

2 recordsLinked to original sources

Macrophage signature-based prediction of cancer treatment response using MIL-attention

Predicting immunotherapy response from single-cell data remains difficult due to patient-level labels, extreme class imbalance, and highly heterogeneous macrophage states. We present a Multiple Instance Learning (MIL) framework that treats each patient as a bag of macrophage embeddings derived from a single-cell RNA foundation model. The architecture incorporates an attention-based pooling mechanism with reduced model complexity, dropout-enhanced regularization and explicit attention penalties to improve stability in small-sample regimes. To address imbalanced clinical datasets, MIL outputs are optimized with a combined focal loss and supervised contrastive objective that simultaneously sharpens class boundaries and improves representation clustering. Across three cancer datasets, this approach outperforms pseudobulk aggregation, embedding baselines and standard MIL variants. Attention-weighted attribution and transcriptional regulatory analysis reveal distinct macrophage programs, interferon and antigen-presentation networks in responders versus hypoxia-linked regulatory modules in non-responders. This shows the potential of MIL to uncover predictive and mechanistically interpretable immune states.

bioinformatics↗

RNA foundation models enable generalizable endometriosis disease classification and stable gene-level interpretation

Endometriosis is a chronic inflammatory condition with significant diagnostic delays impacting one in ten reproductive age women worldwide. While machine learning (ML) models trained on transcriptomic data show promise for disease prediction, limited generalizability across independent patient cohorts has hindered clinical translation. Foundations models (FMs) pretrained on large-scale transcriptomic data offer promise to learn transferrable, biologically meaningful representations that could support cross-cohort predictions. We assembled a 12-cohort bulk RNA-seq benchmark (334 samples) and developed a computationally efficient pipeline to test whether FMs improve endometriosis classification, an approach not previously applied to this disease. Using AutoXAI4Omics with cohort-aware validation, we compared embeddings derived from five state-of-the-art RNA FMs against TPM baselines. In cross-cohort prediction, FM embeddings significantly improved performance, achieving a weighted F1-score of 0.83 vs. 0.68 for the baseline. To allow gene-level interpretation of FM embedding models, we introduce classified-aligned integrated gradients (CA-IG), an interpretability approach aligning gene-level attributions to the downstream classifier without end-to-end finetuning. CA-IG revealed a conserved set of predictive genes from FM embeddings across cohort-validation regimes, contrasting with unstable baseline explainability, suggesting that FM embeddings prioritized transferable disease-related signal over cohort-specific effects. These genes include novel candidates that converge on biologically plausible pathways for endometriosis.

bioinformatics↗