Abstract:Brain tumor segmentation is essential for diagnosis and treatment planning, yet many CNN and U-Net based approaches produce noisy boundaries in regions of tumor infiltration. We introduce UAMSA-UNet, an Uncertainty-Aware Multi-Scale Attention-based Bayesian U-Net that in- stead leverages Monte Carlo Dropout to learn a data-driven smoothing prior over its predictions, while fusing multi-scale features and attention maps to capture both fine details and global context. Our smoothing-regularized loss augments binary cross-entropy with a variance penalty across stochas- tic forward passes, discouraging spurious fluctuations and yielding spatially coherent masks. On BraTS2023, UAMSA- UNet improves Dice Similarity Coefficient by up to 3.3% and mean IoU by up to 2.7% over U-Net; on BraTS2024, it delivers up to 4.5% Dice and 4.0% IoU gains over the best baseline. Remarkably, it also reduces FLOPs by 42.5% rel- ative to U-Net++ while maintaining higher accuracy. These results demonstrate that, by combining multi-scale attention with a learned smoothing prior, UAMSA-UNet achieves both better segmentation quality and computational efficiency, and provides a flexible foundation for future integration with transformer-based modules for further enhanced segmenta- tion results.
Abstract:Motivation. Understanding the pan-cancer mutational landscape offers critical insights into the molecular mechanisms underlying tumorigenesis. While patient-level machine learning techniques have been widely employed to identify tumor subtypes, cohort-level clustering, where entire cancer types are grouped based on shared molecular features, has largely relied on classical statistical methods. Results. In this study, we introduce a novel unsupervised contrastive learning framework to cluster 43 cancer types based on coding mutation data derived from the COSMIC database. For each cancer type, we construct two complementary mutation signatures: a gene-level profile capturing nucleotide substitution patterns across the most frequently mutated genes, and a chromosome-level profile representing normalized substitution frequencies across chromosomes. These dual views are encoded using TabNet encoders and optimized via a multi-scale contrastive learning objective (NT-Xent loss) to learn unified cancer-type embeddings. We demonstrate that the resulting latent representations yield biologically meaningful clusters of cancer types, aligning with known mutational processes and tissue origins. Our work represents the first application of contrastive learning to cohort-level cancer clustering, offering a scalable and interpretable framework for mutation-driven cancer subtyping.
Abstract:Imaging and genomic data offer distinct and rich features, and their integration can unveil new insights into the complex landscape of diseases. In this study, we present a novel approach utilizing radiogenomic data including structural MRI images and gene expression data, for Alzheimer's disease detection. Our framework introduces a novel heterogeneous bipartite graph representation learning featuring two distinct node types: genes and images. The network can effectively classify Alzheimer's disease (AD) into three distinct stages:AD, Mild Cognitive Impairment (MCI), and Cognitive Normal (CN) classes, utilizing a small dataset. Additionally, it identified which genes play a significant role in each of these classification groups. We evaluate the performance of our approach using metrics including classification accuracy, recall, precision, and F1 score. The proposed technique holds potential for extending to radiogenomic-based classification to other diseases.