clinical diagnostic teams

Abstract: DNA methylation (DNAM) array-based tumor classification is a powerful clinical diagnostic tool, but models trained on fixed reference cohorts can produce faulty predictions for tumor types not represented in the training distribution. We propose an end-to-end deep representation learning-based out-of-distribution (OOD) detection framework for DNAm array data. Deep neural network (DNN) classifiers were trained on public sarcoma (SARC) (GSE140686) and brain tumor (BT) (GSE90496) cohorts, and feature vectors were extracted from bottleneck layers. Five OOD methods, including 1dimension (1D)-Subspace Analysis (1D-SSA), K-Nearest Neighbors (KNN), Ridge Regression, Mahalanobis Distance (MD), and Sum of Squared Distances (SSD), were explored with 200 and 500-dimensional embeddings. Spectral discrepancy was used to discriminate in-distribution (IND) from OOD samples. Performance was measured via cross-validation, holdout samples, and an independent clinical dataset. 1D-SSA was the most effective approach. In the sarcoma-IND/brain tumor-OOD setting, the framework achieved an AUROC of 0.975 and True Negative Rate (TNR)@95TPR of 0.930, and an AUROC of 0.9569 and TNR@95TPR of 0.8660 for the brain tumor-IND/sarcoma-OOD setting. On the independent clinical test set, the method yielded a mean AUROC of 0.976, a DE of 0.032, an FPR@95TPR of 0.065, and a TNR@95TPR of 0.935. These results show deep representation-based OOD detection as a practical quality-control layer for clinical-grade methylation-based tumor classification systems.

Abstract: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder for which early and accurate diagnosis is critical to improving long-term developmental outcomes. However, existing ASD recognition methods are often constrained by the scarcity of diagnostic text data, forcing them to rely mainly on visual analysis and limiting their ability to model clinically meaningful semantic reasoning. To address this challenge, we propose UniAR, a unified framework enhanced by multi-granularity prompt learning for robust ASD recognition under heterogeneous data variations. Specifically, UniAR leverages a large multimodal model to generate hierarchical diagnostic descriptions at the word, phrase, and sentence levels, compensating for the lack of paired clinical reports. To align the generated semantics with visual evidence, we further design a Mixture-of-Experts-based Multi-Scale Alignment Module, which dynamically matches vector-quantized visual prototypes with semantic representations at corresponding granularities. Extensive experiments on four benchmarks covering brain MRI and facial expression scenarios show that UniAR consistently outperforms existing state-of-the-art methods, achieving average accuracies of 75.9\% on MRI benchmarks and 91.6\% on facial benchmarks, while improving average Accuracy on MRI benchmarks by 1.5 percentage points and average Accuracy on facial benchmarks by 1.2 percentage points over baselines. These results demonstrate that UniAR offers a robust and interpretable framework for ASD screening under semantic scarcity.

Abstract: The SYNTAX score is an established tool for assessing coronary artery disease and guiding revascularization treatment decisions. However, its manual estimation from coronary angiography videos by clinical experts is time-consuming and subject to inter-reader variability. While machine learning has shown promise in automating this process, prior work has primarily focused on lesion detection, characterization, or binary disease classification, leaving direct SYNTAX score prediction relatively unexplored. We propose SynSeq, a video-based method for direct SYNTAX score prediction. It combines targeted preprocessing with a tailored training strategy using a zero-inflation-aware loss and linear target scaling. Evaluated on the public CardioSyntax dataset, SynSeq significantly outperforms previous state-of-the-art methods, improving $R^2$ by 0.55, reducing prediction bias by 93.1% and achieving more consistent performance across annotations from three independent expert graders. In addition, SynSeq achieves a weighted $F_1$-score of 0.80 for revascularization treatment recommendations, slightly below inter-expert agreement. These results demonstrate the potential of SynSeq to provide consistent, automated SYNTAX score assessment and reliable decision support for coronary revascularization planning.

Abstract: Brain signal analysis is essential for both neuroscience research and clinical diagnostics, yet current approaches face critical limitations. End-to-end models require task-specific retraining and exhibit limited generalization, while pre-trained models lack semantic depth and still depend on extensive fine-tuning. Meanwhile, general-purpose multimodal foundation models, though powerful in other domains, struggle to interpret brain signals due to representational misalignment and lack of domain knowledge. This study introduces a multimodal foundation model for zero-shot and multi-task brain signal analysis (METIS) through a unified language-signal alignment framework. METIS is pretrained on the largest and most diverse brain-signal corpus to date, comprising over 70,000 h of recordings from more than 11,000 subjects across 20 datasets. In a comprehensive zero-shot evaluation across 12 datasets, METIS outperformed the leading generalist model by over 20.9% in average accuracy. Remarkably, without any fine-tuning, METIS's performance matches or exceeds that of supervised, task-specific models. Furthermore, METIS demonstrates exceptional data efficiency and strong generalization, achieving an average AUROC advantage of over 16.0% in few-shot settings and 15.9% in cross-dataset transfer. This work establishes a new paradigm for general-purpose brain signal analysis, paving the way for next-generation neurotechnology.

Abstract: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition whose early diagnosis remains challenging because conventional clinical assessments are often subjective, time-consuming, and require expert evaluation. Gait provides a promising non-invasive behavioral biomarker for auto- mated ASD screening; however, existing studies have primarily relied on single-dataset evaluations, convolutional architectures, and descriptive summaries of cross-validation performance without formally assessing fold-to-fold stability. This study addresses these gaps with an attention-enhanced Transformer framework for ASD classification, evaluated on two structurally different 3D gait feature representations: precomputed statistical gait descriptors and raw biomechanical ground-reaction- force measurements. Under five-fold cross-validation, the proposed framework achieved 99.00% accuracy, 99.02% precision, 99.00% recall, 99.00% F1-score, and 99.00% specificity on the public Kinect-based benchmark, exceeding the performance of the compared state-of-the-art methods. On the independent private force-plate dataset, it achieved mean values of 95.00% accuracy, 93.81% precision, 96.67% recall, 95.13% F1-score, and 93.33% specificity.

Abstract: Bone-marrow cytology is inherently structured: each cell belongs to a hematopoietic lineage, and many cell types lie on ordered maturation trajectories. Standard flat classifiers ignore this structure, treating a mild same-lineage confusion the same as a severe cross-lineage mistake and predicting only discrete labels. We propose HemaHier, an ordinal-hierarchical prediction head for a frozen or lightly adapted cytology foundation model. Its central component is a chain-conditioned maturity score that reads a single maturity value under a per-chain query, supervised only on biologically valid healthy chains, while dysplastic and off-chain cell types remain classes but are excluded from maturity supervision. Fine and lineage predictions are coupled through a shared posterior that guarantees hierarchical consistency, and a staged objective first stabilizes recognition, then adds lineage and maturity supervision. On three bone-marrow datasets under a shared ontology, HemaHier achieves competitive recognition while reducing biologically severe errors and adding a within-lineage maturity ordering that flat classifiers lack. Code is available at https://github.com/xmindflow/HemaHier.

Abstract: Chagas disease is a major cause of cardiomyopathy in Latin America. Cardiac magnetic resonance (CMR) imaging can characterize its structural abnormalities, but scanners and expert readers remain scarce in endemic regions. Electrocardiography (ECG) is inexpensive and widely available, yet structural disease must be inferred indirectly from electrical signals. We propose to transfer CMR-derived structural knowledge to ECG through contrastive pre-training. Using 63,193 paired ECG-CMR examinations from the UK Biobank, we align an ECG encoder with a clinically grounded CMR embedding space using an asymmetric InfoNCE objective. Despite seeing no Chagas cases during pre-training, the resulting representation improves ECG-based Chagas detection. Across CODE-15% and SaMi-Trop, a frozen linear probe achieves an AUROC of 0.851 and sensitivity at the top 5% of predicted risk (Top5%-TPR) of 0.427 in five-fold cross-validation, compared with 0.827 and 0.377 for an unaligned ECG-FM baseline. On the PhysioNet/CinC 2025 Challenge test set, our model obtains the highest AUROC on SaMi-Trop-3 and the best ELSA-Brasil challenge score among the three top-performing methods, indicating that imaging-supervised ECG representations can generalize to populations and settings beyond the pre-training distribution.