Alzheimer's disease (AD) is a progressive neurodegenerative disorder associated with impairments in memory and executive functions. Despite significant advancements in identifying genetic risk factors, the high cost and limited accessibility of genetic testing remain major barriers. In this work, we propose a cost-effective screening approach that leverages EEG recordings and psychometric test scores to predict an individual's genetic risk for AD. Our Convolutional Neural Network (CNN) model shows promising performance: it achieved an F1 score of 72.21% in distinguishing APOE-$\varepsilon$4/PICALM GG non-carriers (N) from APOE-$\varepsilon$4 carriers with the risky PICALM GG alleles (A+P+). It reached an F1 score of 60.78% for differentiating non-carriers (N) from APOE-$\varepsilon$4 carriers without the risky alleles (A+P-), and 65.12% when separating A+P- from A+P+. To enhance interpretability, we employ Grad-CAM, which reveals that EEG features contribute more significantly to gene prediction than psychometric measures. Notably, our model also identifies three key psychometric tests, MINI-COPE (which assesses emotional coping skills), the California Verbal Learning Test (CVLT), and NEO Neuroticism, as associated with higher AD risk, consistent with prior research. Moreover, our results align with earlier findings reporting increased theta-band power among high-risk individuals. Finally, Higuchi Fractal Dimension (HFD) features drove most of the EEG-based prediction capability, as shown through our ablation study. This study highlights the potential of integrating neurophysiological and cognitive assessments to develop accessible and reliable screening tools for AD genetic risk, enabling earlier diagnoses.

BACKGROUND: Comprehensively mapping the hierarchical structure of breast cancer protein communities and identifying potential biomarkers from them is a promising way for breast cancer research. Existing approaches are subjective and fail to take information from protein sequences into consideration. Deep learning can automatically learn features from protein sequences and protein-protein interactions for hierarchical clustering. RESULTS: Using a large amount of publicly available proteomics data, we created a hierarchical tree for breast cancer protein communities using a novel hierarchical graph neural network, with the supervision of gene ontology terms and assistance of a pre-trained deep contextual language model. Then, a group-lasso algorithm was applied to identify protein communities that are under both mutation burden and survival burden, undergo significant alterations when targeted by specific drug molecules, and show cancer-dependent perturbations. The resulting hierarchical map of protein communities shows how gene-level mutations and survival information converge on protein communities at different scales. Internal validity of the model was established through the convergence on BRCA2 as a breast cancer hotspot. Further overlaps with breast cancer cell dependencies revealed SUPT6H and RAD21, along with their respective protein systems, HOST:37 and HOST:861, as potential biomarkers. Using gene-level perturbation data of the HOST:37 and HOST:861 gene sets, three FDA-approved drugs with high therapeutic value were selected as potential treatments to be further evaluated. These drugs include mercaptopurine, pioglitazone, and colchicine. CONCLUSION: The proposed graph neural network approach to analyzing breast cancer protein communities in a hierarchical structure provides a novel perspective on breast cancer prognosis and treatment. By targeting entire gene sets, we were able to evaluate the prognostic and therapeutic value of genes (or gene sets) at different levels, from gene-level to system-level biology. Cancer-specific gene dependencies provide additional context for pinpointing cancer-related systems and drug-induced alterations can highlight potential therapeutic targets. These identified protein communities, in conjunction with other protein communities under strong mutation and survival burdens, can potentially be used as clinical biomarkers for breast cancer.

Autonomous Sensory Meridian Response (ASMR) is an audio-visual phenomenon characterized by multisensory experiences in response to specific auditory stimuli, typically triggering a tingling sensation beginning in the scalp and neck and accompanied by decreased heart rate and deep relaxation. While prior electroencephalogram (EEG) studies have identified ASMR-related neural signatures in stimulus-based paradigms, resting-state differe nces between ASMR-sensitive (ASMR+) and non-sensitive (ASMR-) individuals remain unexplored. In this study, we apply Higuchi's fractal dimension (HFD) to eyes-open and eyes-closed resting-state EEG and demonstrate that ASMR+ participants exhibit significantly lower complexity in the delta (1-4Hz) and theta (4-8Hz) bands and higher complexity in the alpha (8-12Hz) band. Moreover, we train Transformer, Mamba, Random Forest and SVM classifiers on these HFD features to distinguish ASMR+ individuals from ASMR-, achieving F1 scores of 82.56%, 77.33%, 73.93%, and 70.85%, respectively. Finally, using an explainable-AI approach, we showed that ASMR+ participants had significantly lower hubness proportions (network connectivity) than ASMR-. These findings reveal novel resting-state biomarkers of ASMR sensitivity and lay the groundwork for rapid, noninvasive EEG-based screening in ASMR-augmented therapeutic applications. The code has been released on https://github.com/Shyamal-Dharia/Fractal-Dimension-of-Resting-State-EEG-as-a-Biomarker-for-Autonomous-Sensory-Meridian-Response-ASMR-GitHub.

This study addresses the heterogeneity of Breast Cancer (BC) by employing a Conditional Probabilistic Diffusion Model (CPDM) to synthesize Magnetic Resonance Images (MRIs) based on multi-omic data, including gene expression, copy number variation, and DNA methylation. The lack of paired medical images and genomics data in previous studies presented a challenge, which the CPDM aims to overcome. The well-trained CPDM successfully generated synthetic MRIs for 726 TCGA-BRCA patients, who lacked actual MRIs, using their multi-omic profiles. Evaluation metrics such as Frechet's Inception Distance (FID), Mean Square Error (MSE), and Structural Similarity Index Measure (SSIM) demonstrated the CPDM's effectiveness, with an FID of 2.02, an MSE of 0.02, and an SSIM of 0.59 based on the 15-fold cross-validation. The synthetic MRIs were used to predict clinical attributes, achieving an Area Under the Receiver-Operating-Characteristic curve (AUROC) of 0.82 and an Area Under the Precision-Recall Curve (AUPRC) of 0.84 for predicting ER+/HER2+ subtypes. Additionally, the MRIs served to accurately predicted BC patient survival with a Concordance-index (C-index) score of 0.88, outperforming other baseline models. This research demonstrates the potential of CPDMs in generating MRIs based on BC patients' genomic profiles, offering valuable insights for radiogenomic research and advancements in precision medicine. The study provides a novel approach to understanding BC heterogeneity for early detection and personalized treatment.

Spatial transcriptomics has gained popularity over the past decade due to its ability to evaluate transcriptome data while preserving spatial information. Cell segmentation is a crucial step in spatial transcriptomic analysis, as it enables the avoidance of unpredictable tissue disentanglement steps. Although high-quality cell segmentation algorithms can aid in the extraction of valuable data, traditional methods are frequently non-spatial, do not account for spatial information efficiently, and perform poorly when confronted with the problem of spatial transcriptome cell segmentation with varying shapes. In this study, we propose ST-CellSeg, an image-based machine learning method for spatial transcriptomics that uses manifold for cell segmentation and is novel in its consideration of multi-scale information. We first construct a fully connected graph which acts as a spatial transcriptomic manifold. Using multi-scale data, we then determine the low-dimensional spatial probability distribution representation for cell segmentation. Using the adjusted Rand index (ARI), normalized mutual information (NMI), and Silhouette coefficient (SC) as model performance measures, the proposed algorithm significantly outperforms baseline models in selected datasets and is efficient in computational complexity.

BACKGROUND: A recurring problem in image segmentation is a lack of labelled data. This problem is especially acute in the segmentation of lung computed tomography (CT) of patients with Coronavirus Disease 2019 (COVID-19). The reason for this is simple: the disease has not been prevalent long enough to generate a great number of labels. Semi-supervised learning promises a way to learn from data that is unlabelled and has seen tremendous advancements in recent years. However, due to the complexity of its label space, those advancements cannot be applied to image segmentation. That being said, it is this same complexity that makes it extremely expensive to obtain pixel-level labels, making semi-supervised learning all the more appealing. This study seeks to bridge this gap by proposing a novel model that utilizes the image segmentation abilities of deep convolution networks and the semi-supervised learning abilities of generative models for chest CT images of patients with the COVID-19. RESULTS: We propose a novel generative model called the shared variational autoencoder (SVAE). The SVAE utilizes a five-layer deep hierarchy of latent variables and deep convolutional mappings between them, resulting in a generative model that is well suited for lung CT images. Then, we add a novel component to the final layer of the SVAE which forces the model to reconstruct the input image using a segmentation that must match the ground truth segmentation whenever it is present. We name this final model StitchNet. CONCLUSION: We compare StitchNet to other image segmentation models on a high-quality dataset of CT images from COVID-19 patients. We show that our model has comparable performance to the other segmentation models. We also explore the potential limitations and advantages in our proposed algorithm and propose some potential future research directions for this challenging issue.