abnormality
GAIA: Delving into Gradient-based Attribution Abnormality for Out-of-distribution Detection
Detecting out-of-distribution (OOD) examples is crucial to guarantee the reliability and safety of deep neural networks in real-world settings. In this paper, we offer an innovative perspective on quantifying the disparities between in-distribution (ID) and OOD data---analyzing the uncertainty that arises when models attempt to explain their predictive decisions. This perspective is motivated by our observation that gradient-based attribution methods encounter challenges in assigning feature importance to OOD data, thereby yielding divergent explanation patterns. Consequently, we investigate how attribution gradients lead to uncertain explanation outcomes and introduce two forms of abnormalities for OOD detection: the zero-deflation abnormality and the channel-wise average abnormality. We then propose GAIA, a simple and effective approach that incorporates Gradient Abnormality Inspection and Aggregation. The effectiveness of GAIA is validated on both commonly utilized (CIFAR) and large-scale (ImageNet-1k) benchmarks. Specifically, GAIA reduces the average FPR95 by 23.10% on CIFAR10 and by 45.41% on CIFAR100 compared to advanced post-hoc methods.
Transferring Clinical Knowledge into ECGs Representation
Fernandes, Jose Geraldo, de Souza, Luiz Facury, Dutenhefner, Pedro Robles, Pappa, Gisele L., Meira, Wagner Jr
Deep learning models have shown high accuracy in classifying electrocardiograms (ECGs), but their black box nature hinders clinical adoption due to a lack of trust and interpretability. To address this, we propose a novel three-stage training paradigm that transfers knowledge from multimodal clinical data (laboratory exams, vitals, biometrics) into a powerful, yet unimodal, ECG encoder. We employ a self-supervised, joint-embedding pre-training stage to create an ECG representation that is enriched with contextual clinical information, while only requiring the ECG signal at inference time. Furthermore, as an indirect way to explain the model's output we train it to also predict associated laboratory abnormalities directly from the ECG embedding. Evaluated on the MIMIC-IV-ECG dataset, our model outperforms a standard signal-only baseline in multi-label diagnosis classification and successfully bridges a substantial portion of the performance gap to a fully multimodal model that requires all data at inference. Our work demonstrates a practical and effective method for creating more accurate and trustworthy ECG classification models. By converting abstract predictions into physiologically grounded \emph{explanations}, our approach offers a promising path toward the safer integration of AI into clinical workflows.
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Explainable Cross-Disease Reasoning for Cardiovascular Risk Assessment from LDCT
Zhang, Yifei, Zhang, Jiashuo, Safari, Mojtaba, Yang, Xiaofeng, Zhao, Liang
Low-dose chest computed tomography (LDCT) inherently captures both pulmonary and cardiac structures, offering a unique opportunity for joint assessment of lung and cardiovascular health. However, most existing approaches treat these domains as independent tasks, overlooking their physiological interplay and shared imaging biomarkers. We propose an Explainable Cross-Disease Reasoning Framework that enables interpretable cardiopulmonary risk assessment from a single LDCT scan. The framework introduces an agentic reasoning process that emulates clinical diagnostic thinking-first perceiving pulmonary findings, then reasoning through established medical knowledge, and finally deriving a cardiovascular judgment with explanatory rationale. It integrates three synergistic components: a pulmonary perception module that summarizes lung abnormalities, a knowledge-guided reasoning module that infers their cardiovascular implications, and a cardiac representation module that encodes structural biomarkers. Their outputs are fused to produce a holistic cardiovascular risk prediction that is both accurate and physiologically grounded. Experiments on the NLST cohort demonstrate that the proposed framework achieves state-of-the-art performance for CVD screening and mortality prediction, outperforming single-disease and purely image-based baselines. Beyond quantitative gains, the framework provides human-verifiable reasoning that aligns with cardiological understanding, revealing coherent links between pulmonary abnormalities and cardiac stress mechanisms. Overall, this work establishes a unified and explainable paradigm for cardiovascular analysis from LDCT, bridging the gap between image-based prediction and mechanism-based medical interpretation.
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Rethinking Whole-Body CT Image Interpretation: An Abnormality-Centric Approach
Zhao, Ziheng, Dai, Lisong, Zhang, Ya, Wang, Yanfeng, Xie, Weidi
Automated interpretation of CT images--particularly localizing and describing abnormal findings across multi-plane and whole-body scans--remains a significant challenge in clinical radiology. This work aims to address this challenge through four key contributions: (i) On taxonomy, we collaborate with senior radiologists to propose a comprehensive hierarchical classification system, with 404 representative abnormal findings across all body regions; (ii) On data, we contribute a dataset containing over 14.5K CT images from multiple planes and all human body regions, and meticulously provide grounding annotations for over 19K abnormalities, each linked to the detailed description and cast into the taxonomy; (iii) On model development, we propose OmniAbnorm-CT, which can automatically ground and describe abnormal findings on multi-plane and whole-body CT images based on text queries, while also allowing flexible interaction through visual prompts; (iv) On evaluation, we establish three representative tasks based on real clinical scenarios, and introduce a clinically grounded metric to assess abnormality descriptions. Through extensive experiments, we show that OmniAbnorm-CT can significantly outperform existing methods in both internal and external validations, and across all the tasks.
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- Information Technology > Artificial Intelligence > Machine Learning > Neural Networks > Deep Learning (0.67)
- Information Technology > Artificial Intelligence > Machine Learning > Performance Analysis > Accuracy (0.46)
GenePheno: Interpretable Gene Knockout-Induced Phenotype Abnormality Prediction from Gene Sequences
Yan, Jingquan, Miao, Yuwei, Yu, Lei, Guo, Yuzhi, Xiao, Xue, Xu, Lin, Huang, Junzhou
Exploring how genetic sequences shape phenotypes is a fundamental challenge in biology and a key step toward scalable, hypothesis-driven experimentation. The task is complicated by the large modality gap between sequences and phenotypes, as well as the pleiotropic nature of gene-phenotype relationships. Existing sequence-based efforts focus on the degree to which variants of specific genes alter a limited set of phenotypes, while general gene knockout induced phenotype abnormality prediction methods heavily rely on curated genetic information as inputs, which limits scalability and generalizability. As a result, the task of broadly predicting the presence of multiple phenotype abnormalities under gene knockout directly from gene sequences remains underexplored. We introduce GenePheno, the first interpretable multi-label prediction framework that predicts knockout induced phenotypic abnormalities from gene sequences. GenePheno employs a contrastive multi-label learning objective that captures inter-phenotype correlations, complemented by an exclusive regularization that enforces biological consistency. It further incorporates a gene function bottleneck layer, offering human interpretable concepts that reflect functional mechanisms behind phenotype formation. To support progress in this area, we curate four datasets with canonical gene sequences as input and multi-label phenotypic abnormalities induced by gene knockouts as targets. Across these datasets, GenePheno achieves state-of-the-art gene-centric $F_{\text{max}}$ and phenotype-centric AUC, and case studies demonstrate its ability to reveal gene functional mechanisms.
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