Medical Diagnosis

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21 papers in the last four weeks, up 320% on the four weeks before. 0.2% of all new papers.

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May 5, 2026cs.AI

SymptomAI: Toward a Conversational AI Agent for Everyday Symptom Assessment

Language models excel at diagnostic assessments on curated medical case-studies and vignettes, performing on par with, or better than, clinical professionals. However, existing studies focus on complex scenarios with rich context making it difficult to draw conclusions about how these systems perform for patients reporting symptoms in everyday life. We deployed SymptomAI, a set of conversational AI agents for end-to-end patient interviewing and differential diagnosis (DDx), via the Fitbit app in a study that randomized participants (N=13,917) to interact with five AI agents. This corpus captures diverse communication and a realistic distribution of illnesses from a real world population. A subset of 1,228 participants reported a clinician-provided diagnosis, and 517 of these were further evaluated by a panel of clinicians during over 250 hours of annotation. SymptomAI DDx were significantly more accurate (OR = 2.56, p < 0.001) than those from independent clinicians given the same dialogue in a blinded randomized comparison. Moreover, agentic strategies which conduct a dedicated symptom interview that elicit additional symptom information before providing a diagnosis, perform substantially better than baseline, user-guided conversations (p < 0.001). An auxiliary analysis on 1,509 conversations from a general US population panel validated that these results generalize beyond wearable device users. We used SymptomAI diagnoses as labels for all 13,917 participants to analyze over 500,000 days of wearable metrics across nearly 400 unique conditions. We identified strong associations between acute infections and physiological shifts (e.g., OR > 7 for influenza). While limited by self-reported ground truth, these results demonstrate the benefits of a dedicated and complete symptom interview compared to a user-guided symptom discussion, which is the default of most consumer LLMs.

Joseph Breda, Fadi Yousif, Beszel Hawkins +30

Google Research · Work done while at Google Research · Google DeepMind

Healthcare Medical Diagnosis LLM Agent Evaluation LLM Agents Differential Diagnosis

May 5, 2026q-bio.QM

Donor-Aware scRNA-seq Benchmarks for IBD Classification

Donor-level disease classification from single-cell RNA sequencing (scRNA-seq) requires strict donor-aware cross-validation: naive pipelines that split cells randomly conflate training and test donors, inflating reported performance through pseudoreplication. We present a donor-aware benchmark evaluating three feature representations across two independent IBD cohorts: centered log-ratio (CLR) transformed cell-type composition, GatedStructuralCFN dependency embeddings, and scVI variational autoencoder latent embeddings. The cohorts are the SCP259 ulcerative colitis atlas (UC vs. Healthy, n=30 donors, 51 cell types) and the Kong 2023 Crohn's disease atlas (CD vs. Healthy, n=71 donors, 55-68 cell types across three intestinal regions). Compartment-stratified CLR composition achieves AUROC 0.956 +/- 0.061 on SCP259; GatedStructuralCFN on the same features achieves 0.978 +/- 0.050. In the Kong cohort, CFN achieves its best performance in the colon region (0.960 +/- 0.055 after feature filtering), exceeding linear CLR (0.900 +/- 0.100), while terminal ileum classification is dominated by linear models (CatBoost CLR 0.967 +/- 0.075 vs. CFN 0.811 +/- 0.164). Cross-dataset transfer (CD->UC, four shared cell types) achieves AUC 0.833 with XGBoost CLR; the reverse direction performs at chance. CFN edge stability analysis shows that compartment-wise composition eliminates spurious unit-sum-induced instability present in global composition (Jaccard 0.026 vs. top-20 recurrence 1.0). CFN shows a consistent numerical advantage over linear models in the colon region of CD (AUROC 0.960 vs. 0.900), though no inter-method comparison reached statistical significance at n<=34 donors per region. Compartment-aware feature construction is critical for both classification performance and structural interpretability. Code: https://github.com/Jonathan-321/sfn-scrna-study

Jonathan Muhire

Department of Computer Science, Oklahoma Christian University

Medical Diagnosis Single-Cell RNA Sequencing

May 4, 2026cs.CV

Scientific Domain Knowledge Improves Vision-Language Fundus Models

Vision-language models hold considerable promise for ophthalmology, but it remains unclear which training data source best conveys expert domain knowledge. Existing ophthalmic models are trained on fixed text templates, medical reports, or general biomedical literature, sources that have never been compared under matched conditions. To include domain-specific literature in this comparison, we present PubMed-Ophtha, a hierarchical dataset with high domain density of 102,023 panels with their subcaptions from 15,842 open-access articles in PubMed Central. We then finetuned identical CLIP models on each source, using a general biomedical literature model as baseline, and found that domain-specific literature achieved the best average performance across 110 clinical tasks, reaching a mean linear probing AUROC of 88.63% ahead of medical reports (85.68%). Restricting the dataset to fundus images, to the image count of the medical report dataset, or to articles unrelated to the evaluation datasets did not reduce performance, indicating that the gains likely stem from domain density. We release the dataset, the finetuned models, and the full generation pipeline.

Verena Jasmin Hallitschke, Carsten Eickhoff, Philipp Berens

1Hertie Institute for AI in Brain Health, University of Tübingen, Tübingen, Germany · Institute for Applied Medical Informatics, University of Tübingen, Tübingen, Germany · 2Tübingen AI Center, Tübingen, Germany

Healthcare Medical Diagnosis Medical VLMs Fundus Imaging Medical Image Benchmarks Vision-Language Pretraining

May 4, 2026cs.CV

OphMAE: Bridging Volumetric and Planar Imaging with a Foundation Model for Adaptive Ophthalmological Diagnosis

The advent of foundation models has heralded a new era in medical artificial intelligence (AI), enabling the extraction of generalizable representations from large-scale unlabeled datasets. However, current ophthalmic AI paradigms are predominantly constrained to single-modality inference, thereby creating a dissonance with clinical practice where diagnosis relies on the synthesis of complementary imaging modalities. Furthermore, the deployment of high-performance AI in resource-limited settings is frequently impeded by the unavailability of advanced three-dimensional imaging hardware. Here, we present the Ophthalmic multimodal Masked Autoencoder (OphMAE), a multi-imaging foundation model engineered to synergize the volumetric depth of 3D Optical Coherence Tomography (OCT) with the planar context of 2D en face OCT. By implementing a novel cross-modal fusion architecture and a unique adaptive inference mechanism, OphMAE was pre-trained on a massive dataset with of 183,875 paired OCT images derived from 32,765 patients. In a rigorous benchmark encompassing 17 diverse diagnostic tasks with 48,340 paired OCT images from 8,191 patients, the model demonstrated state-of-the-art performance, achieving an Area Under the Curve (AUC) of 96.9% for Age-related Macular Degeneration (AMD) and 97.2% for Diabetic Macular Edema (DME), consistently surpassing existing single-modal and multimodal foundation models. Crucially, OphMAE exhibits robust engineering adaptability: it maintains high diagnostic accuracy, such as 93.7% AUC for AMD, even when restricted to single-modality 2D inputs, and demonstrates exceptional data efficiency by retaining 95.7% AUC with as few as 500 labeled samples. This work establishes a scalable and adaptable framework for ophthalmic AI, ensuring robust performance across different tasks.

Tienyu Chang, Zhen Chen, Renjie Liang +9

Department of Biostatistics and Health Data Science, Indiana University, Indianapolis, IN · Department of Biomedical Informatics and Data Science, Yale University, New Haven, CT · Department of Data Science and Artificial Intelligence, The Hong Kong Polytechnic University, Hong Kong +5

Medical Imaging Foundation Models Masked Autoencoders Medical Diagnosis Medical Image Classification Multimodal Fusion Medical Image Representation Learning

May 4, 2026cs.CL

Reliability-Oriented Multilingual Orthopedic Diagnosis: A Domain-Adaptive Modeling and a Conceptual Validation Framework

Large Language Models (LLMs) are increasingly proposed for clinical decision support including multilingual diagnosis in low-resource settings. However, their reliability, calibration and safety characteristics remain insufficiently understood for structured, high-risk tasks. We present a system-level analysis of multilingual orthopedic diagnosis from free-text clinical notes in English, Hindi and Punjabi. We evaluate three modeling regimes: (i) task-aligned multilingual transformer encoders, (ii) a task-fine-tuned baseline (DistilBERT), and (iii) a domain-adaptive architecture tailored to orthopedic text (IndicBERT-HPA). These models are compared with zero-shot, instruction-tuned LLMs to assess suitability for structured diagnostic classification. Results indicate that while LLMs exhibit strong linguistic fluency, they show unstable calibration and reduced reliability under structured multilingual conditions, particularly in low-resource languages. These findings are specific to zero-shot evaluation and do not imply limitations of fine-tuned models. Domain-adaptive specialization substantially improves cross-lingual discrimination and confidence behavior. IndicBERT-HPA, with language-specific orthopedic adapter heads achieves consistently strong performance across six diagnostic categories and more predictable deployment characteristics than task-only adaptation. Building on these observations, we outline a conceptual deterministic agent-based validation framework for future implementation, formalizing evidence checks, language-sensitive validation and conservative human-in-the-loop gating. Reliable multilingual clinical decision support requires specialized architecture, explicit reliability analysis, and structured validation for safety-critical systems.

Danish Ali, Li Xiaojian, Sundas Iqbal +1

School of Computer Science, Wuhan University, China · School of Software, Nanjing University of Information Science and Technology (NUIST), China · Department of Orthopedic, Bahawal Victoria Hospital, Pakistan

Multilingual Language Model Evaluation Healthcare Domain Adaptation Medical Diagnosis Language Model Calibration Clinical Language Model Evaluation+1

May 4, 2026cs.CV

MultiSense-Pneumo: A Multimodal Learning Framework for Pneumonia Screening in Resource-Constrained Settings

Pneumonia remains a leading global cause of morbidity and mortality, particularly in low-resource settings where access to imaging, laboratory testing, and specialist care is limited. Clinical assessment relies on heterogeneous evidence, including symptoms, respiratory patterns, spoken descriptions, and chest imaging, making frontline screening inherently multimodal. However, many existing computational approaches remain unimodal and focus primarily on radiographs. In this work, we present MultiSense-Pneumo, a multimodal research prototype for pneumonia-oriented screening and triage support that integrates structured symptom descriptors, cough audio, spoken language, and chest radiographs. The system combines deterministic symptom triage, LightGBM-based acoustic classification, domain-adversarial radiograph analysis using ResNet-18, transformer-based speech recognition, and an interpretable late-fusion operator. Each modality is transformed into a normalized concern signal and aggregated into a unified screening estimate. The fusion weights are hand-specified and are treated as heuristic, interpretable parameters rather than learned or clinically optimized values. MultiSense-Pneumo is implemented with offline execution in mind on standard laptop-class hardware, but it is not presented as a deployment-validated or clinically validated diagnostic system. Experimental results demonstrate strong component-level performance of the radiograph pathway under synthetic domain shifts, while also highlighting important limitations, especially reduced abnormal-class recall for cough acoustics and the absence of paired end-to-end multimodal patient evaluation. MultiSense-Pneumo is therefore intended as a framework and component-level prototype for screening and triage research.

Dineth Jayakody, Pasindu Thenahandi, Chameli Dommanige

Department of Computer Science, Old Dominion University, VA, USA

Domain-Adversarial Learning Clinical Triage Medical Diagnosis Multimodal Fusion

May 1, 2026cs.AI

From ML Predictions to Informed Diagnostic Assistance Using the Toulmin Model of Argumentation

To provide a structured and interpretable assessment, we decompose the image-based diagnosis into components following the Toulmin model of argumentation. This model consists of a claim, grounds, warrant, qualifier, rebuttal, and backing. Consider a claim generated by a machine learning (ML) model for retinal diagnosis. Rather than accepting this claim at face value, one could either apply explainable AI (XAI) methods or adopt an argumentation-based approach. In our framework, a model specialized in biomarker extraction from images provides the grounds. The warrant-linking the grounds to the claim - is analyzed by an agent equipped with medical knowledge; in our architecture, this role is fulfilled by a MedGemma agent. The qualifier is determined based on the overall quantitative evaluation of both the warrant and grounds models. Finally, a rebuttal is constructed using image similarity measures computed with MedSigLip. All these components are presented to the human expert, enabling a more informed and critical assessment of the ML-generated diagnosis.

Anca Marginean, Adrian Groza

Medical Diagnosis Explainable Medical Image Analysis

May 1, 2026cs.CV

Are Multimodal LLMs Ready for Clinical Dermatology? A Real-World Evaluation in Dermatology

Multimodal large language models (MLLMs) have demonstrated promise on publicly available dermatology benchmarks. However, benchmark performance may not generalize to real-world dermatologic decision-making. To quantify this benchmark-to-bedside gap, we evaluated four open-weight MLLMs (InternVL-Chat v1.5, LLaVA-Med v1.5, SkinGPT4 and MedGemma-4B-Instruct) and one commercial MLLM (GPT-4.1) across three publicly available dermatology datasets and a retrospective multi-site hospital-based dermatology consultation cohort comprising 5,811 cases and 46,405 clinical images. Models were evaluated on two clinically relevant tasks: differential diagnosis generation and severity-based triage. Diagnostic performance was modest on public datasets and declined substantially in the real-world cohort. On public benchmarks, top-3 diagnostic accuracy reached 26.55% for the best open-weight model and 42.25% for GPT-4.1. On real-world consultation cases using images alone, top-3 diagnostic accuracy fell to 1.50%-13.35% among open-weight models and 24.65% for GPT-4.1. Incorporating clinical context improved performance across all models, increasing top-3 diagnostic accuracy up to 28.75% among open-weight models and 38.93% for GPT-4.1. However, model outputs were highly sensitive to incomplete or erroneous consultation context. For severity-based triage, models achieved moderate sensitivity (above 60%), suggesting potential utility for screening but insufficient reliability for clinical deployment. These findings demonstrate that benchmark performance substantially overestimates the real-world clinical capability of current dermatology MLLMs.

Roy Jiang, Hyunjae Kim, Zhenyue Qin +8

Department of Dermatology, Yale School of Medicine, Yale University, New Haven, CT, USA · Department of Bioinformatics and Data Science, Yale School of Medicine, Yale University, New Haven, CT, USA · Yale School of Medicine, Yale University, New Haven, CT, USA

Healthcare Clinical Triage Medical Diagnosis Clinical Decision Support Multimodal Large Language Models Multimodal Model Evaluation+1

Apr 30, 2026cs.CV

JI-ADF: Joint-Individual Learning with Adaptive Decision Fusion for Multimodal Skin Lesion Classification

Skin lesion classification is essential for early dermatological diagnosis, yet many existing computer-aided systems rely primarily on dermoscopic images and underutilize the multimodal evidence routinely available in clinical practice. To address this gap, we propose \textbf{JI-ADF}, a trimodal deep learning framework that integrates dermoscopic images, clinical photographs, and structured patient metadata for clinically grounded skin lesion classification. The proposed architecture combines joint multimodal representation learning with modality-specific auxiliary supervision and an adaptive decision fusion mechanism that dynamically calibrates modality contributions on a per-sample basis. To enhance cross-modal reasoning while preserving modality-specific evidence, we further introduce a multimodal fusion attention (MMFA) module. We evaluate JI-ADF on the large-scale MILK10k benchmark, which reflects real-world clinical acquisition conditions and severe class imbalance. The proposed method demonstrates strong and well-balanced performance across lesion categories, improving sensitivity and Dice score while maintaining high specificity and good calibration. Extensive analyses, including modality ablation, calibration evaluation, and Grad-CAM visualization, further confirm the robustness and clinically meaningful behavior of the model. These results indicate that JI-ADF provides a reliable and practical foundation for multimodal skin lesion classification in real-world clinical settings.

Phan Nguyen, Dat Cao, Hien Kha +4

1KAIST · 2Taipei Medical University · 3Yale University

Skin Lesion Classification Medical Diagnosis Multimodal Classification Medical Image Classification Multimodal Fusion

Apr 28, 2026cs.CV

Toward Multimodal Conversational AI for Age-Related Macular Degeneration

Despite strong performance of deep learning models in retinal disease detection, most systems produce static predictions without clinical reasoning or interactive explanation. Recent advances in multimodal large language models (MLLMs) integrate diagnostic predictions with clinically meaningful dialogue to support clinical decision-making and patient counseling. In this study, OcularChat, an MLLM, was fine-tuned from Qwen2.5-VL using simulated patient-physician dialogues to diagnose age-related macular degeneration (AMD) through visual question answering on color fundus photographs (CFPs). A total of 705,850 simulated dialogues paired with 46,167 CFPs were generated to train OcularChat to identify key AMD features and produce reasoned predictions. OcularChat demonstrated strong classification performance in AREDS, achieving accuracies of 0.954, 0.849, and 0.678 for the three diagnostic tasks: advanced AMD, pigmentary abnormalities, and drusen size, significantly outperforming existing MLLMs. On AREDS2, OcularChat remained the top-performing method on all tasks. Across three independent ophthalmologist graders, OcularChat achieved higher mean scores than a strong baseline model for advanced AMD (3.503 vs. 2.833), pigmentary abnormalities (3.272 vs. 2.828), drusen size (3.064 vs. 2.433), and overall impression (2.978 vs. 2.464) on a 5-point clinical grading rubric. Beyond strong objective performance in AMD severity classification, OcularChat demonstrated the ability to provide diagnostic reasoning, clinically relevant explanations, and interactive dialogue, with high performance in subjective ophthalmologist evaluation. These findings suggest that MLLMs may enable accurate, interpretable, and clinically useful image-based diagnosis and classification of AMD.

Ran Gu, Benjamin Hou, Mélanie Hébert +5

Division of Intramural Research, NaMonal Library of Medicine, NaMonal InsMtutes of Health, Bethesda, Maryland, USA · 2. Division of Epidemiology and Clinical ApplicaMons, NaMonal Eye InsMtute, NaMonal InsMtutes of Health, Bethesda, Maryland, USA · 1. Division of Intramural Research, NaMonal Library of Medicine, NaMonal InsMtutes of Health, Bethesda, Maryland, USA

Medical Diagnosis Medical VQA Medical VLMs

Apr 28, 2026cs.CV

Exploring Remote Photoplethysmography for Neonatal Pain Detection from Facial Videos

Unaddressed pain in neonates can lead to adverse effects, including delayed development and slower weight gain, emphasising the need for more objective and reliable pain assessment methods. Hence, automated methods using behavioural and physiological pain indicators have been developed to aid healthcare professionals in the Neonatal ICU. Traditional contact-based methods for physiological parameter estimation are unsuitable for long-term monitoring and increase the risk of spreading diseases like COVID-19. We introduce a novel approach using remote photoplethysmography (rPPG) to estimate pulse signals in a non-contact manner and employ them for neonatal pain detection. The temporal signals acquired from regions-of-interest (ROIs) affected by skin deformations may exhibit lower quality and provide erroneous rPPG signals. Therefore, we incorporated a quality parameter to select the temporal signals obtained from ROIs that are least affected by skin deformations. Further, we employed signal-to-noise ratio as a fitness parameter to extract the rPPG signal corresponding to the clip that is least affected by noise. Experimental findings demonstrate that the rPPG signals provide useful information for neonatal pain detection, and signals extracted from the blue colour channel outperform those extracted from other colour channels. We also show that combining rPPG and audio features provides better results than individual modalities.

Ashutosh Dhamaniya, Anup Kumar Gupta, Trishna Saikia +1

Department of Computer Science and Engineering, Indian Institute of Technology Indore, 452020, India.

Remote Photoplethysmography Medical Diagnosis Photoplethysmography

Apr 27, 2026cs.CV

Aycromo: An Open-Source Platform for Automatic Chromosome Detection in Metaphase Images Based on Deep Learning

Chromosome analysis is a fundamental step in the diagnosis of genetic diseases, but the manual karyotyping workflow is time-consuming and heavily dependent on expert specialists, often requiring several days per patient. Although Deep Learning models have achieved high performance in chromosome detection, most proposed solutions remain restricted to research prototypes or lack graphical interfaces suitable for clinical use. In this work, we present Aycromo, an open-source desktop platform for AI-assisted cytogenetic analysis. Built on Electron and ONNX Runtime, the tool allows cytogeneticists to load pre-trained models, compare architectures through an integrated benchmarking module, and manually correct detections via an interactive annotation interface, all without command-line interaction. Preliminary experiments on metaphase images from the CRCN-NE dataset demonstrate that YOLOv11 achieves 99.40% mAP@50, while the platform reduces per-slide analysis to seconds

Jorge L. A. Lima, Filipe R. Cordeiro

Visual Computing Lab, Department of Computing, Universidade Federal Rural de Pernambuco (UFRPE), Brazil

Medical Diagnosis Microscopy Image Analysis

Apr 27, 2026cs.CL

MultiDx: A Multi-Source Knowledge Integration Framework towards Diagnostic Reasoning

Diagnostic prediction and clinical reasoning are critical tasks in healthcare applications. While Large Language Models (LLMs) have shown strong capabilities in commonsense reasoning, they still struggle with diagnostic reasoning due to limited domain knowledge. Existing approaches often rely on internal model knowledge or static knowledge bases, resulting in knowledge insufficiency and limited adaptability, which hinder their capacity to perform diagnostic reasoning. Moreover, these methods focus solely on the accuracy of final predictions, overlooking alignment with standard clinical reasoning trajectories. To this end, we propose MultiDx, a two-stage diagnostic reasoning framework that performs differential diagnosis by analyzing evidence collected from multiple knowledge sources. Specifically, it first generates suspected diagnoses and reasoning paths by leveraging knowledge from web search, SOAP-formatted case, and clinical case database. Then it integrates multi-perspective evidence through matching, voting, and differential diagnosis to generate the final prediction.~Extensive experiments on two public benchmarks demonstrate the effectiveness of our approach.

Yimin Deng, Zhenxi Lin, Yejing Wang +9

Xi’an Jiaotong University · City University of Hong Kong · Tencent Jarvis Lab +1

Knowledge Augmentation for Language Models Medical Diagnosis Clinical Reasoning Clinical Prediction Differential Diagnosis Medical LLMs

Apr 26, 2026cs.AI

FAIR_XAI: Improving Multimodal Foundation Model Fairness via Explainability for Wellbeing Assessment

In recent years, the integration of multimodal machine learning in wellbeing assessment has offered transformative potential for monitoring mental health. However, with the rapid advancement of Vision-Language Models (VLMs), their deployment in clinical settings has raised concerns due to their lack of transparency and potential for bias. While previous research has explored the intersection of fairness and Explainable AI (XAI), its application to VLMs for wellbeing assessment and depression prediction remains under-explored. This work investigates VLM performance across laboratory (AFAR-BSFT) and naturalistic (E-DAIC) datasets, focusing on diagnostic reliability and demographic fairness. Performance varied substantially across environments and architectures; Phi3.5-Vision achieved 80.4% accuracy on E-DAIC, while Qwen2-VL struggled at 33.9%. Additionally, both models demonstrated a tendency to over-predict depression on AFAR-BSFT. Although bias existed across both architectures, Qwen2-VL showed higher gender disparities, while Phi-3.5-Vision exhibited more racial bias. Our XAI intervention framework yielded mixed results; fairness prompting achieved perfect equal opportunity for Qwen2-VL at a severe accuracy cost on E-DAIC. On AFAR-BSFT, explainability-based interventions improved procedural consistency but did not guarantee outcome fairness, sometimes amplifying racial bias. These results highlight a persistent gap between procedural transparency and equitable outcomes. We analyse these findings and consolidate concrete recommendations for addressing them, emphasising that future fairness interventions must jointly optimise predictive accuracy, demographic parity, and cross-domain generalisation.

Sophie Chiang, Tom Brennan, Fethiye Irmak Dogan +2

Department of Computer Science & Technology, University of Cambridge. · Harvard University.

Depression Detection Medical Diagnosis VLM Interpretability Multimodal Model Evaluation

Apr 26, 2026q-bio.OT

A multi-stage soft computing framework for complex disease modelling and decision support: A liver cirrhosis case study

Liver cirrhosis is a major global health problem causing millions of deaths annually, and timely detection with aggressive treatment can significantly improve patients' quality of life. Modelling complex diseases from biomedical data is computationally challenging due to high dimensionality, strong feature correlations, noise, and limited labelled samples. Conventional Machine Learning (ML) pipelines often struggle with robustness, interpretability, and generalisation under such conditions. In this study, we propose an ML-driven multi-stage decision framework for complex disease modelling and therapeutic exploration. The framework integrates single-cell transcriptomic profiling, high-dimensional network-based feature stabilisation, multi-model learning, deep representation construction, and post-hoc decision support. Specifically, single-cell sequencing data were analysed to identify key cellular subpopulations, followed by high-dimensional weighted gene co-expression network analysis (hdWGCNA) to stabilise gene modules under sparsity and noise. To enhance non-linear feature interaction modelling, tabular molecular features were restructured into two-dimensional disease maps and analysed using a CNN. Finally, molecular docking was incorporated as a decision-support module to evaluate candidate therapeutic compounds. Using liver cirrhosis as a representative case, the framework identified a disease-associated endothelial subpopulation and extracted seven robust signature genes (HSPB1, GADD45A, CLDN5, ATP1B3, C1QBP, ENPP2, and PARL). The CNN-based representation learning module outperformed conventional pipelines in classification. The framework is disease-agnostic and readily extends to other omics-driven biomedical applications involving uncertainty, heterogeneity, and limited samples.

Xueyuan Huang, Yuheng Wang, Yuanzhi He +8

Department of Hepatobiliary Surgery, the Second Affiliated Hospital of Chongqing Medical University, Chongqing, 400010, China · State Key Laboratory of Respiratory Health and Multimorbidity, Institute of Basic Medical Sciences & School of Basic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100005, China · Department of Medical Oncology, the First Hospital of China Medical University, Shenyang, 110001, China +3

Medical Diagnosis Clinical Decision Support

Apr 25, 2026cs.CL

A Benchmark Suite of Reddit-Derived Datasets for Mental Health Detection

The growing availability of online support groups has opened up new windows to study mental health through natural language processing (NLP). However, it is hindered by a lack of high-quality, well-validated datasets. Existing studies have a tendency to build task-specific corpora without collecting them into widely available resources, and this makes reproducibility as well as cross-task comparison challenging. In this paper, we present a uniform benchmark set of four Reddit-based datasets for disjoint but complementary tasks: (i) detection of suicidal ideation, (ii) binary general mental disorder detection, (iii) bipolar disorder detection, and (iv) multi-class mental disorder classification. All datasets were established upon diligent linguistic inspection, well-defined annotation guidelines, and human-judgmental verification. Inter-annotator agreement metrics always exceeded the baseline agreement score of 0.8, ensuring the labels' trustworthiness. Previous work's evidence of performance on both transformer and contextualized recurrent models demonstrates that these models receive excellent performances on tasks (F1 ~ 93-99%), further validating the usefulness of the datasets. By combining these resources, we establish a unifying foundation for reproducible mental health NLP studies with the ability to carry out cross-task benchmarking, multi-task learning, and fair model comparison. The presented benchmark suite provides the research community with an easy-to-access and varied resource for advancing computational approaches toward mental health research.

Khalid Hasan, Jamil Saquer

Missouri State University, Springfield, MO, USA

Medical Diagnosis Mental Health

Apr 23, 2026cs.CV

Divide-then-Diagnose: Weaving Clinician-Inspired Contexts for Ultra-Long Capsule Endoscopy Videos

Capsule endoscopy (CE) enables non-invasive gastrointestinal screening, but current CE research remains largely limited to frame-level classification and detection, leaving video-level analysis underexplored. To bridge this gap, we introduce and formally define a new task, diagnosis-driven CE video summarization, which requires extracting key evidence frames that covers clinically meaningful findings and making accurate diagnoses from those evidence frames. This setting is challenging because diagnostically relevant events are extremely sparse and can be overwhelmed by tens of thousands of redundant normal frames, while individual observations are often ambiguous due to motion blur, debris, specular highlights, and rapid viewpoint changes. To facilitate research in this direction, we introduce VideoCAP, the first CE dataset with diagnosis-driven annotations derived from real clinical reports. VideoCAP comprises 240 full-length videos and provides realistic supervision for both key evidence frame extraction and diagnosis. To address this task, we further propose DiCE, a clinician-inspired framework that mirrors the standard CE reading workflow. DiCE first performs efficient candidate screening over the raw video, then uses a Context Weaver to organize candidates into coherent diagnostic contexts that preserve distinct lesion events, and an Evidence Converger to aggregate multi-frame evidence within each context into robust clip-level judgments. Experiments show that DiCE consistently outperforms state-of-the-art methods, producing concise and clinically reliable diagnostic summaries. These results highlight diagnosis-driven contextual reasoning as a promising paradigm for ultra-long CE video summarization.

Bowen Liu, Li Yang, Shanshan Song +6

1The Hong Kong University of Science and Technology · 2Renji Hospital, Shanghai Jiao Tong University School of Medicine

Endoscopy Medical Imaging Medical Diagnosis Temporal Video Understanding

Apr 22, 2026cs.LG

Improving clinical interpretability of linear neuroimaging models through feature whitening

Linear models are widely used in computational neuroimaging to identify biomarkers associated with brain pathologies. However, interpreting the learned weights remains challenging, as they do not always yield clinically meaningful insights. This difficulty arises in part from the inherent correlation between brain regions, which causes linear weights to reflect shared rather than region-specific contributions. In particular, some groups of regions, including homologous structures in the left and right hemispheres, are known to exhibit strong anatomical correlations. In this work, we leverage this prior neuroanatomical knowledge to introduce a whitening approach applied to groups of regions with known shared variance, designed to disentangle overlapping information across correlated brain measures. We additionally propose a regularized variant that allows controlled tuning of the degree of decorrelation. We evaluate this method using region-of-interest features in two psychiatric classification tasks, distinguishing individuals with bipolar disorder or schizophrenia from healthy controls. Importantly, unlike PCA or ICA which use whitening as a dimensionality reduction step, our approach decorrelates anatomically informed pairs of neuroanatomical regions while retaining the full input signal, making it specifically suited for feature interpretation rather than feature selection. Our findings demonstrate that whitening improves the interpretability of model weights while preserving predictive performance, providing a robust framework for linking linear model outputs to neurobiological mechanisms.

Sara Petiton, Antoine Grigis, Raphaël Vock +1

University Paris-Saclay, CEA, CNRS, NeuroSpin, Baobab UMR 9027, Saclay, France

Medical Diagnosis Interpretable ML Neuroimaging

Apr 22, 2026cs.CV

X-PCR: A Benchmark for Cross-modality Progressive Clinical Reasoning in Ophthalmic Diagnosis

Despite significant progress in Multi-modal Large Language Models (MLLMs), their clinical reasoning capacity for multi-modal diagnosis remains largely unexamined. Current benchmarks, mostly single-modality data, can't evaluate progressive reasoning and cross-modal integration essential for clinical practice. We introduce the Cross-Modality Progressive Clinical Reasoning (X-PCR) benchmark, the first comprehensive evaluation of MLLMs through a complete ophthalmology diagnostic workflow, with two reasoning tasks: 1) a six-stage progressive reasoning chain spanning image quality assessment to clinical decision-making, and 2) a cross-modality reasoning task integrating six imaging modalities. The benchmark comprises 26,415 images and 177,868 expert-verified VQA pairs curated from 51 public datasets, covering 52 ophthalmic diseases. Evaluation of 21 MLLMs reveals critical gaps in progressive reasoning and cross-modal integration. Dataset and code: https://github.com/CVI-SZU/X-PCR.

Gui Wang, Zehao Zhong, YongSong Zhou +6

School of Computer Science and Software Engineering, Shenzhen University · 2Tsinghua University · 5Wenzhou Medical University +3

Healthcare Medical Diagnosis Medical VQA Clinical Reasoning Multimodal Model Evaluation Medical Image Benchmarks

Apr 22, 2026cs.CV

Opportunistic Bone-Loss Screening from Routine Knee Radiographs Using a Multi-Task Deep Learning Framework with Sensitivity-Constrained Threshold Optimization

Background: Osteoporosis and osteopenia are often undiagnosed until fragility fractures occur. Dual-energy X-ray absorptiometry (DXA) is the reference standard for bone mineral density (BMD) assessment, but access remains limited. Knee radiographs are obtained at high volume for osteoarthritis evaluation and may offer an opportunity for opportunistic bone-loss screening. Objective: To develop and evaluate a multi-task deep learning system for opportunistic bone-loss screening from routine knee radiographs without additional imaging or patient visits. Methods: We developed STR-Net, a multi-task framework for single-channel grayscale knee radiographs. The model includes a shared backbone, global average pooling feature aggregation, a shared neck, and a task-aware representation routing module connected to three task-specific heads: binary screening (Normal vs. Bone Loss), severity sub-classification (Osteopenia vs. Osteoporosis), and weakly coupled T-score regression with optional clinical variables. A sensitivity-constrained threshold optimization strategy (minimum sensitivity >= 0.86) was applied. The dataset included 1,570 knee radiographs, split at the patient level into training (n=1,120), validation (n=226), and test (n=224) sets. Results: On the held-out test set, STR-Net achieved an AUROC of 0.933, sensitivity of 0.904, specificity of 0.773, and AUPRC of 0.956 for binary screening. Severity sub-classification achieved an AUROC of 0.898. The T-score regression branch showed a Pearson correlation of 0.801 with DXA-measured T-scores in a pilot subset (n=31), with MAE of 0.279 and RMSE of 0.347. Conclusions: STR-Net enables single-pass bone-loss screening, severity stratification, and quantitative T-score estimation from routine knee radiographs. Prospective clinical validation is needed before deployment.

Zhaochen Li, Xinghao Yan, Runni Zhou +8

ORBIT Lab, College of Medicine and Biological Information Engineering, Northeastern University, Shenyang, Liaoning, China. · Department of Radiology, Liaoning Provincial Key Laboratory of Medical Imaging, Liaoning Provincial Key Laboratory of Imaging Technology and Artificial Intelligence, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China. · Rehabilitation Center, Liaoning Provincial Key Laboratory of Medical Imaging, Liaoning Provincial Key Laboratory of Imaging Technology and Artificial Intelligence, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China. +1

Medical Imaging Medical Diagnosis Multi-Task Learning Medical Image Classification

Apr 21, 2026cs.CV

Infection-Reasoner: A Compact Vision-Language Model for Wound Infection Classification with Evidence-Grounded Clinical Reasoning

Assessing chronic wound infection from photographs is challenging because visual appearance varies across wound etiologies, anatomical locations, and imaging conditions. Prior image-based deep learning methods have mainly focused on classification with limited interpretability, despite the need for evidence-grounded explanations to support point-of-care decision making. We present Infection-Reasoner, a compact 4B-parameter reasoning vision-language model for chronic wound infection classification and rationale generation. To address the scarcity of expert-labeled wound images with reasoning annotations, Infection-Reasoner is trained using a two-stage pipeline: (1) reasoning distillation, in which GPT-5.1 generates chain-of-thought rationales for unlabeled wound images to initialize wound-specific reasoning in a smaller student model (Qwen3-VL-4B-Thinking), and (2) reinforcement learning post-training with Group Relative Policy Optimization on a small labeled infection dataset to refine classification reasoning. On a held-out heterogeneous wound dataset, Infection-Reasoner achieved 86.8% accuracy, 86.4% sensitivity, and 87.1% specificity, outperforming several strong baselines, including GPT-5.1. Rationale quality was further evaluated using both multimodal large language model (MLLM) judges and wound expert review. Across four MLLM judges, visual-support agreement scores ranged from 0.722 to 0.903, while expert review rated 61.8% of rationales as Correct and 32.4% as Partially Correct.

Palawat Busaranuvong, Reza Saadati Fard, Emmanuel Agu +4

Worcester Polytechnic Institute, USA

Healthcare Medical Diagnosis Medical VLMs VLM Reasoning Explainable Medical Image Analysis

Apr 20, 2026cs.LG

Parkinson's Disease Detection via Self-Supervised Dual-Channel Cross-Attention on Bilateral Wrist-Worn IMU Signals

Parkinson's disease (PD) is a chronic neurodegenerative disease. It shows multiple motor symptoms such as tremor, bradykinesia, postural instability, freezing of gait (FoG). PD is currently diagnosed clinically through physical exam by health-care professionals, which can be time consuming and highly subjective. Wearable IMU sensors has become a promising gateway for passive monitoring of PD patients. We propose a self-supervised cross-attention encoder that processes bilateral wrist-worn IMU signals from a public dataset called PADS, consisting of three groups, PD (Parkinson Disease), HC (Healthy Control) and DD (Differential Diagnosis) of a total of 469 subjects. We have achieved a mean accuracy of 93.12% for HC vs. PD classification and 87.04% for PD vs. DD classification. The results emphasize the clinical challenge of distinguishing Parkinson's from other neurodegenerative diseases. Self-supervised representation learning using contrastive infoNCE loss gained an accuracy of 93.56% for HC vs. PD and 92.50% for PD vs. DD using only 20% of labelled data. This demonstrates the effectiveness of our method in transfer learning for clinical use with minimal labels. The real-time applicability was tested by deploying the optimized model with a mean inference time of 48.32 ms per window on a Raspberry Pi CPU.

Meheru Zannat

Khulna University of Engineering & Technology (KUET), Bangladesh

Cross-Attention Self-Supervised Time Series Representation Learning Medical Diagnosis Wearable Sensing Parkinson's Disease

Apr 20, 2026cs.AI

Toward Zero-Egress Psychiatric AI: On-Device LLM Deployment for Privacy-Preserving Mental Health Decision Support

Privacy represents one of the most critical yet underaddressed barriers to AI adoption in mental healthcare -- particularly in high-sensitivity operational environments such as military, correctional, and remote healthcare settings, where the risk of patient data exposure can deter help-seeking behavior entirely. Existing AI-enabled psychiatric decision support systems predominantly rely on cloud-based inference pipelines, requiring sensitive patient data to leave the device and traverse external servers, creating unacceptable privacy and security risks in these contexts. In this paper, we propose a zero-egress, on-device AI platform for privacy-preserving psychiatric decision support, deployed as a cross-platform mobile application. The proposed system extends our prior work on fine-tuned LLM consortiums for psychiatric diagnosis standardization by fundamentally re-architecting the inference pipeline for fully local execution -- ensuring that no patient data is transmitted to, processed by, or stored on any external server at any stage. The platform integrates a consortium of three lightweight, fine-tuned, and quantized open-source LLMs -- Gemma, Phi-3.5-mini, and Qwen2 -- selected for their compact architectures and proven efficiency on resource-constrained mobile hardware. An on-device orchestration layer coordinates ensemble inference and consensus-based diagnostic reasoning, producing DSM-5-aligned assessments for conditions. The platform is designed to assist clinicians with differential diagnosis and evidence-linked symptom mapping, as well as to support patient-facing self-screening with appropriate clinical safeguards. Initial evaluation demonstrates that the proposed zero-egress deployment achieves diagnostic accuracy comparable to its server-side predecessor while sustaining real-time inference latency on commodity mobile hardware.

Eranga Bandara, Asanga Gunaratna, Ross Gore +9

Old Dominion University, Norfolk, VA, USA · AI Motion Labs, Melbourne, Australia · Department of Psychiatry and Neurobehavioral Sciences, University of Virginia School of Medicine, Charlottesville, VA, USA +3

On-Device Language Model Inference Privacy-Preserving Language Models Medical Diagnosis Clinical Decision Support Mental Health

Apr 20, 2026cs.CV

Rabies diagnosis in low-data settings: A comparative study on the impact of data augmentation and transfer learning

Rabies remains a major public health concern across many African and Asian countries, where accurate diagnosis is critical for effective epidemiological surveillance. The gold standard diagnostic methods rely heavily on fluorescence microscopy, necessitating skilled laboratory personnel for the accurate interpretation of results. Such expertise is often scarce, particularly in regions with low annual sample volumes. This paper presents an automated, AI-driven diagnostic system designed to address these challenges. We developed a robust pipeline utilizing fluorescent image analysis through transfer learning with four deep learning architectures: EfficientNetB0, EfficientNetB2, VGG16, and Vision Transformer (ViTB16). Three distinct data augmentation strategies were evaluated to enhance model generalization on a dataset of 155 microscopic images (123 positive and 32 negative). Our results demonstrate that TrivialAugmentWide was the most effective augmentation technique, as it preserved critical fluorescent patterns while improving model robustness. The EfficientNetB0 model, utilizing Geometric & Color augmentation and selected through stratified 3fold cross-validation, achieved optimal classification performance on cropped images. Despite constraints posed by class imbalance and a limited dataset size, this work confirms the viability of deep learning for automating rabies diagnosis. The proposed method enables fast and reliable detection with significant potential for further optimization. An online tool was deployed to facilitate practical access, establishing a framework for future medical imaging applications. This research underscores the potential of optimized deep learning models to transform rabies diagnostics and improve public health outcomes.

Khalil Akremi, Mariem Handous, Zied Bouslama +4

University of Carthage, Engineering School of Statistics and Information Analysis, Tunis, Tunisia. · University of Tunis-El-Manar, Rabies Laboratory, Institut Pasteur de Tunis, Tunis, Tunisia. · World Health Organization, Country Oﬀice Tunisia. +1

Data Augmentation Medical Diagnosis Medical Image Classification Transfer Learning Microscopy Image Analysis

Apr 20, 2026cs.LG

Sonata: A Hybrid World Model for Inertial Kinematics under Clinical Data Scarcity

We introduce Sonata, a compact latent world model for six-axis trunk IMU representation learning under clinical data scarcity. Clinical cohorts typically comprise tens to hundreds of patients, making web-scale masked-reconstruction objectives poorly matched to the problem. Sonata is a 3.77 M-parameter hybrid model, pre-trained on a harmonised corpus of nine public datasets (739 subjects, 190k windows) with a latent world-model objective that predicts future state rather than reconstructing raw sensor traces. In a controlled comparison against a matched autoregressive forecasting baseline (MAE) on the same backbone, Sonata yields consistently stronger frozen-probe clinical discrimination, prospective fall-risk prediction, and cross-cohort transfer across a 14-arm evaluation suite, while producing higher-rank, more structured latent representations. At 3.77 M parameters the model is compatible with on-device wearable inference, offering a step toward general kinematic world models for neurological assessment.

Blaise Delaney, Salil Patel, Yuji Xing +3

1TimeTrace Labs · 2NVIDIA · University of Oxford

Medical Diagnosis Predictive Representation Learning Latent World Models

Apr 20, 2026cs.CY

First, Do No Harm (With LLMs): Mitigating Racial Bias via Agentic Workflows

Large language models (LLMs) are increasingly used in clinical settings, raising concerns about racial bias in both generated medical text and clinical reasoning. Existing studies have identified bias in medical LLMs, but many focus on single models and give less attention to mitigation. This study uses the EU AI Act as a governance lens to evaluate five widely used LLMs across two tasks, namely synthetic patient-case generation and differential diagnosis ranking. Using race-stratified epidemiological distributions in the United States and expert differential diagnosis lists as benchmarks, we apply structured prompt templates and a two-part evaluation design to examine implicit and explicit racial bias. All models deviated from observed racial distributions in the synthetic case generation task, with GPT-4.1 showing the smallest overall deviation. In the differential diagnosis task, DeepSeek V3 produced the strongest overall results across the reported metrics. When embedded in an agentic workflow, DeepSeek V3 showed an improvement of 0.0348 in mean p-value, 0.1166 in median p-value, and 0.0949 in mean difference relative to the standalone model, although improvement was not uniform across every metric. These findings support multi-metric bias evaluation for AI systems used in medical settings and suggest that retrieval-based agentic workflows may reduce some forms of explicit bias in benchmarked diagnostic tasks. Detailed prompt templates, experimental datasets, and code pipelines are available on our GitHub.

Sihao Xing, Zaur Gouliev

School of Enterprise Computing and Digital Transformation Technological University Dublin · School of Information and Communication Studies University College Dublin

Healthcare Social Bias in Language Models Medical Diagnosis Language Model Bias Evaluation Clinical Language Model Evaluation Medical LLMs

Apr 18, 2026cs.CV

Conditional Evidence Reconstruction and Decomposition for Interpretable Multimodal Diagnosis

Neurobiological and neurodegenerative diseases are inherently multifactorial, arising from coupled influences spanning genetic susceptibility, brain alterations, and environmental and behavioral factors. Multimodal modeling has therefore been increasingly adopted for disease diagnosis by integrating complementary evidence across data sources. However, in both large-scale cohorts and real-world clinical workflows, modality coverage is often incomplete, making many multimodal models brittle when one or more modalities are unavailable. Existing approaches to incomplete multimodal diagnosis typically rely on group-wise or static priors, which may fail to capture subject-specific cross-modal dependencies; moreover, many models provide limited interpretability into which evidence sources drive the final decision. To address these limitations, we propose Conditional Evidence Reconstruction and Decomposition (CERD), a framework for interpretable multimodal diagnosis with incomplete modalities. CERD first reconstructs missing modality representations conditioned on each subject's observed inputs, then decomposes diagnostic evidence into shared cross-modal corroboration and modality-specific cues via logit-level attribution. Experiments on the Alzheimer's Disease Neuroimaging Initiative (ADNI) demonstrate that CERD outperforms competitive baselines under incomplete-modality settings while producing structured and clinically aligned evidence attributions for trustworthy decision support.

Shaowen Wan, Yanjun Lv, Lu Zhang +5

Department of Biomedical Engineering, New Jersey Institute of Technology, Newark, NJ 07102, USA · Department of Computer Science and Engineering, The University of Texas at Arlington, Arlington, TX 76019, USA · Department of Computer Science, Indiana University Indianapolis, Indianapolis, IN 46202, USA +1

Missing-Modality Learning Medical Diagnosis Multimodal Model Interpretability

Apr 18, 2026cs.LG

Evaluating Multimodal LLMs for Inpatient Diagnosis: Real-World Performance, Safety, and Cost Across Ten Frontier Models

Background: Large language models (LLMs) are increasingly proposed for diagnostic support, but few evaluations use real-world multimodal inpatient data, particularly in low and middle-income country (LMIC) public hospitals. Methods: We conducted VALID, a retrospective evaluation of 539 multimodal inpatient cases from a tertiary public hospital in South Africa. Inputs included radiology imaging (CT, MRI, CXR) and reports, laboratory results, clinical notes, and vital signs. Expert panels adjudicated 300 cases (balanced and discordant subsets) to establish ground truth diagnoses, differentials, and reasoning. Ten multimodal LLMs generated zero-shot outputs. A calibrated three-model LLM Jury scored all outputs and routine ward diagnoses across diagnostic accuracy, differential quality, reasoning, and patient safety (>10,000 evaluations). Primary outcomes were composite scores (

S_3

,

S_4

) and win rates. Results: (i) LLM performance was tightly clustered (<15% variation) despite large cost differences; low-cost models performed comparably to top models. (ii) All LLMs significantly outperformed routine ward diagnoses on average diagnostic and safety scores. (iii) Top performance was achieved by GPT-5.1, followed by Gemini models. (vi) Adding radiology reports improved performance by 6%. (v) Diagnostic and reasoning scores were highly correlated (

ρ= 0.85

). (vi) Output rates varied (65-100%) due to input constraints. Results were robust across subsets and evaluation design. Conclusions: Across a real-world LMIC dataset, multimodal LLMs showed similar diagnostic performance despite large cost differences and outperformed routine care on average safety metrics. Affordability, robustness, and deployment constraints may outweigh marginal performance differences in LMIC settings.

Bruce A. Bassett, Amy Rouillard, Sitwala Mundia +8

School of Computer Science and Applied Mathematics, University of the Witwatersrand, Johannesburg, South Africa · Wits MIND Institute, University of the Witwatersrand, Johannesburg, South Africa · Grai Labs, Cape Town, South Africa +3

Language Model Safety Evaluation Healthcare Medical Diagnosis Clinical Language Model Evaluation Multimodal Model Evaluation Medical LLMs

Apr 16, 2026cs.LG

Nationwide EHR-Based Chronic Rhinosinusitis Prediction Using Demographic-Stratified Models

Chronic rhinosinusitis (CRS) is a common heterogeneous inflammatory disorder that causes substantial morbidity and healthcare costs. CRS is difficult to identify early from routine encounters, as symptom presentations overlap with common conditions such as allergic rhinitis, and heterogeneous phenotypes further obscure risk patterns. Prior predictive studies often rely on single-institutional cohorts , which reduce population-level generalizability. To overcome this, we leveraged nationwide longitudinal EHR data from the \textit{All of Us} Research Program to predict CRS diagnosis using two years of pre-diagnostic history. To address extreme feature sparsity and dimensionality in coded EHR data, we implemented a hybrid feature-selection pipeline that combines prevalence-based statistical screening with model-based importance ranking, compressing approximately 110,000 candidate codes into 100 interpretable features. To capture demographic heterogeneity, we trained demographic stratified models across six adult sex and life-stage subgroups with subgroup-specific hyperparameter tuning. Our framework achieved an overall AUC of 0.8461, improving discrimination by 0.0168 over the best baseline. These results demonstrate that routinely collected EHR data may support population-representative CRS risk stratification and inform earlier triage and referral prioritization in primary care.

Sicong Chang, Yidan Shen, Justina Varghese +7

Electrical and Computer Engineering University of Houston Houston, USA · Otolaryngology Houston Methodist Hospital Houston, USA · Information Science Technology, University of Houston & Otolaryngology, Houston Methodist Hospital Houston, USA

Medical Diagnosis Clinical Prediction Longitudinal EHR Modeling Clinical Risk Prediction

Mar 25, 2026cs.CV

CORA: Generalizable coronary artery disease assessment and risk stratification from coronary CT angiography using pathology-centric representation learning

Coronary artery disease, a leading cause of cardiovascular mortality worldwide, can be assessed non-invasively by coronary computed tomography angiography (CCTA). Although deep learning has advanced automated CCTA analysis, clinical translation remains constrained by the scarcity of expert-annotated data and by the spatial sparsity of coronary pathology, which occupies only a small fraction of each scan. Widely used label-free pretraining strategies, such as masked image modeling and contrastive learning, optimize for global anatomical reconstruction and tend to under-represent these tiny localized pathological features. Here we present CORA, an annotation-efficient model for comprehensive coronary artery disease assessment. Rather than reconstructing background anatomy, CORA learns from volumetric CCTA through a synthesis-driven self-supervised strategy: an anatomy-guided engine inserts diverse synthetic calcified and non-calcified lesions into unlabeled scans, reframing pretraining as an abnormality-detection task that biases representation learning toward clinically relevant disease features. We pretrained CORA on 10,138 unlabeled CCTA volumes and evaluated it across datasets from nine independent hospitals. Across plaque characterization, stenosis detection, and coronary artery segmentation, CORA consistently outperformed strong self-supervised pretraining baselines, with the largest gains on external multi-center data, indicating robust generalization under distributional shift. Coupling the imaging encoder with structured clinical variables further enabled near-term major adverse cardiac event (MACE) risk stratification. Our results show that pathology-centric, synthesis-driven pretraining is an effective and scalable strategy for annotation-efficient coronary artery disease assessment from CCTA.

Jinkui Hao, Gorkem Durak, Halil Ertugrul Aktas +4

Department of Radiology, Northwestern University, Chicago, IL, USA · Department of Biomedical Engineering, Northwestern University, Evanston, IL, USA · Department of Cardiology, Northwestern University, Chicago, IL, USA +1

Synthetic Data Pretraining Coronary Angiography Medical Diagnosis Medical Image Anomaly Detection Medical Image Segmentation Coronary Artery Segmentation+2