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Benchmarking Ophthalmology Foundation Models for Clinically Significant Age Macular Degeneration Detection

arXiv.org Artificial Intelligence

Self-supervised learning (SSL) has enabled Vision Transformers (ViTs) to learn robust representations from large-scale natural image datasets, enhancing their generalization across domains. In retinal imaging, foundation models pretrained on either natural or ophthalmic data have shown promise, but the benefits of in-domain pretraining remain uncertain. To investigate this, we benchmark six SSL-pretrained ViTs on seven digital fundus image (DFI) datasets totaling 70,000 expert-annotated images for the task of moderate-to-late age-related macular degeneration (AMD) identification. Our results show that iBOT pretrained on natural images achieves the highest out-of-distribution generalization, with AUROCs of 0.80-0.97, outperforming domain-specific models, which achieved AUROCs of 0.78-0.96 and a baseline ViT-L with no pretraining, which achieved AUROCs of 0.68-0.91. These findings highlight the value of foundation models in improving AMD identification and challenge the assumption that in-domain pretraining is necessary. Furthermore, we release BRAMD, an open-access dataset (n=587) of DFIs with AMD labels from Brazil.


An Inclusive Foundation Model for Generalizable Cytogenetics in Precision Oncology

arXiv.org Artificial Intelligence

Chromosome analysis is vital for diagnosing genetic disorders and guiding cancer therapy decisions through the identification of somatic clonal aberrations. However, developing an AI model are hindered by the overwhelming complexity and diversity of chromosomal abnormalities, requiring extensive annotation efforts, while automated methods remain task-specific and lack generalizability due to the scarcity of comprehensive datasets spanning diverse resource conditions. Here, we introduce CHROMA, a foundation model for cytogenomics, designed to overcome these challenges by learning generalizable representations of chromosomal abnormalities. Pre -trained on over 84,000 specimens (~4 million chromosomal images) via self -supervised learning, CHROMA outperforms other methods across all types of abnormalities, even when trained on fewer labelled data and more imbalanced datasets. By facilitating comprehensive mapping of instability and clonal leisons across various aberration types, CHROMA offers a scalable and generalizable solution for reliable and automated clinical analysis, reducing the annotation workload for experts and advancing precision oncology through the early detection of rare genomic abnormalities, enabling broad clinical AI applications and making advanced genomic analysis more accessible.


Advancing Tabular Stroke Modelling Through a Novel Hybrid Architecture and Feature-Selection Synergy

arXiv.org Artificial Intelligence

Brain stroke remains one of the principal causes of death and disability worldwide, yet most tabular-data prediction models still hover below the 95% accuracy threshold, limiting real-world utility. Addressing this gap, the present work develops and validates a completely data-driven and interpretable machine-learning framework designed to predict strokes using ten routinely gathered demographic, lifestyle, and clinical variables sourced from a public cohort of 4,981 records. We employ a detailed exploratory data analysis (EDA) to understand the dataset's structure and distribution, followed by rigorous data preprocessing, including handling missing values, outlier removal, and class imbalance correction using Synthetic Minority Over-sampling Technique (SMOTE). To streamline feature selection, point-biserial correlation and random-forest Gini importance were utilized, and ten varied algorithms-encompassing tree ensembles, boosting, kernel methods, and a multilayer neural network-were optimized using stratified five-fold cross-validation. Their predictions based on probabilities helped us build the proposed model, which included Random Forest, XGBoost, LightGBM, and a support-vector classifier, with logistic regression acting as a meta-learner. The proposed model achieved an accuracy rate of 97.2% and an F1-score of 97.15%, indicating a significant enhancement compared to the leading individual model, LightGBM, which had an accuracy of 91.4%. Our study's findings indicate that rigorous preprocessing, coupled with a diverse hybrid model, can convert low-cost tabular data into a nearly clinical-grade stroke-risk assessment tool.


Anomaly Detection Based on Critical Paths for Deep Neural Networks

arXiv.org Artificial Intelligence

Deep neural networks (DNNs) are notoriously hard to understand and difficult to defend. Extracting representative paths (including the neuron activation values and the connections between neurons) from DNNs using software engineering approaches has recently shown to be a promising approach in interpreting the decision making process of blackbox DNNs, as the extracted paths are often effective in capturing essential features. With this in mind, this work investigates a novel approach that extracts critical paths from DNNs and subsequently applies the extracted paths for the anomaly detection task, based on the observation that outliers and adversarial inputs do not usually induce the same activation pattern on those paths as normal (in-distribution) inputs. In our approach, we first identify critical detection paths via genetic evolution and mutation. Since different paths in a DNN often capture different features for the same target class, we ensemble detection results from multiple paths by integrating random subspace sampling and a voting mechanism. Compared with state-of-the-art methods, our experimental results suggest that our method not only outperforms them, but it is also suitable for the detection of a broad range of anomaly types with high accuracy.


Reliable Decision Support with LLMs: A Framework for Evaluating Consistency in Binary Text Classification Applications

arXiv.org Machine Learning

LLM-based annotation has become something of an academic Wild West: the lack of established practices and standards has led to concerns about the quality and validity of research. Researchers have warned that the ostensible simplicity of LLMs can be misleading, as they are prone to bias, misunderstandings, and unreliable results [1, p.1]. LLMs outperform typical human annotators. The evidence is consistent across different types of texts and time periods. It strongly suggests that ChatGPT may already be a superior approach compared to crowd annotations on platforms such as MTurk. At the very least, the findings demonstrate the importance of studying the text-annotation properties and capabilities of LLMs more in depth [2, p.2]. Together, these contrasting perspectives highlight the need to critically examine large language models (LLMs) for text annotation and classification. Although human annotation remains widespread, it poses considerable challenges. It is time-consuming and costly--up to $5 per annotation and $50 per hour for annotators [3]--and often suffers from inconsistencies stemming from the intricacies of language and the subjectivity of annotators [4].


Aligning Explanations with Human Communication

arXiv.org Machine Learning

Machine learning explainability aims to make the decision-making process of black-box models more transparent by finding the most important input features for a given prediction task. Recent works have proposed composing explanations from semantic concepts (e.g., colors, patterns, shapes) that are inherently interpretable to the user of a model. However, these methods generally ignore the communicative context of explanation-the ability of the user to understand the prediction of the model from the explanation. For example, while a medical doctor might understand an explanation in terms of clinical markers, a patient may need a more accessible explanation to make sense of the same diagnosis. In this paper, we address this gap with listener-adaptive explanations. We propose an iterative procedure grounded in principles of pragmatic reasoning and the rational speech act to generate explanations that maximize communicative utility. Our procedure only needs access to pairwise preferences between candidate explanations, relevant in real-world scenarios where a listener model may not be available. We evaluate our method in image classification tasks, demonstrating improved alignment between explanations and listener preferences across three datasets. Furthermore, we perform a user study that demonstrates our explanations increase communicative utility.


Are machine learning interpretations reliable? A stability study on global interpretations

arXiv.org Machine Learning

As machine learning systems are increasingly used in high-stakes domains, there is a growing emphasis placed on making them interpretable to improve trust in these systems. In response, a range of interpretable machine learning (IML) methods have been developed to generate human-understandable insights into otherwise black box models. With these methods, a fundamental question arises: Are these interpretations reliable? Unlike with prediction accuracy or other evaluation metrics for supervised models, the proximity to the true interpretation is difficult to define. Instead, we ask a closely related question that we argue is a prerequisite for reliability: Are these interpretations stable? We define stability as findings that are consistent or reliable under small random perturbations to the data or algorithms. In this study, we conduct the first systematic, large-scale empirical stability study on popular machine learning global interpretations for both supervised and unsupervised tasks on tabular data. Our findings reveal that popular interpretation methods are frequently unstable, notably less stable than the predictions themselves, and that there is no association between the accuracy of machine learning predictions and the stability of their associated interpretations. Moreover, we show that no single method consistently provides the most stable interpretations across a range of benchmark datasets. Overall, these results suggest that interpretability alone does not warrant trust, and underscores the need for rigorous evaluation of interpretation stability in future work. To support these principles, we have developed and released an open source IML dashboard and Python package to enable researchers to assess the stability and reliability of their own data-driven interpretations and discoveries.


Word Level Timestamp Generation for Automatic Speech Recognition and Translation

arXiv.org Artificial Intelligence

We introduce a data-driven approach for enabling word-level timestamp prediction in the Canary model. Accurate times-tamp information is crucial for a variety of downstream tasks such as speech content retrieval and timed subtitles. While traditional hybrid systems and end-to-end (E2E) models may employ external modules for timestamp prediction, our approach eliminates the need for separate alignment mechanisms. By leveraging the NeMo Forced Aligner (NFA) as a teacher model, we generate word-level timestamps and train the Canary model to predict timestamps directly. We introduce a new <|timestamp|> token, enabling the Canary model to predict start and end timestamps for each word. Our method demonstrates precision and recall rates between 80% and 90%, with timestamp prediction errors ranging from 20 to 120 ms across four languages, with minimal WER degradation. Additionally, we extend our system to automatic speech translation (AST) tasks, achieving timestamp prediction errors around 200 milliseconds.


Evaluate Bias without Manual Test Sets: A Concept Representation Perspective for LLMs

arXiv.org Artificial Intelligence

Bias in Large Language Models (LLMs) significantly undermines their reliability and fairness. We focus on a common form of bias: when two reference concepts in the model's concept space, such as sentiment polarities (e.g., "positive" and "negative"), are asymmetrically correlated with a third, target concept, such as a reviewing aspect, the model exhibits unintended bias. For instance, the understanding of "food" should not skew toward any particular sentiment. Existing bias evaluation methods assess behavioral differences of LLMs by constructing labeled data for different social groups and measuring model responses across them, a process that requires substantial human effort and captures only a limited set of social concepts. To overcome these limitations, we propose BiasLens, a test-set-free bias analysis framework based on the structure of the model's vector space. BiasLens combines Concept Activation Vectors (CAVs) with Sparse Autoencoders (SAEs) to extract interpretable concept representations, and quantifies bias by measuring the variation in representational similarity between the target concept and each of the reference concepts. Even without labeled data, BiasLens shows strong agreement with traditional bias evaluation metrics (Spearman correlation r > 0.85). Moreover, BiasLens reveals forms of bias that are difficult to detect using existing methods. For example, in simulated clinical scenarios, a patient's insurance status can cause the LLM to produce biased diagnostic assessments. Overall, BiasLens offers a scalable, interpretable, and efficient paradigm for bias discovery, paving the way for improving fairness and transparency in LLMs.


Recognition of Unseen Combined Motions via Convex Combination-based EMG Pattern Synthesis for Myoelectric Control

arXiv.org Artificial Intelligence

Electromyogram (EMG) signals recorded from the skin surface enable intuitive control of assistive devices such as prosthetic limbs. However, in EMG-based motion recognition, collecting comprehensive training data for all target motions remains challenging, particularly for complex combined motions. This paper proposes a method to efficiently recognize combined motions using synthetic EMG data generated through convex combinations of basic motion patterns. Instead of measuring all possible combined motions, the proposed method utilizes measured basic motion data along with synthetically combined motion data for training. This approach expands the range of recognizable combined motions while minimizing the required training data collection. We evaluated the effectiveness of the proposed method through an upper limb motion classification experiment with eight subjects. The experimental results demonstrated that the proposed method improved the classification accuracy for unseen combined motions by approximately 17%.