Clinical education must prepare medical students to conduct safe and coherent patient interviews under conditions of uncertainty. Traditional standardized patient (SP) training is resource-intensive and difficult to scale. We developed a scaffolding-oriented multi-agent Large Language Model (LLM) AI Standardized Patient (AI-SP) training platform1. The system includes a patient agent for simulated dialog, a tutor agent providing Socratic prompts without disclosing diagnostic information, and a turn-level evaluator agent that monitors clinical progress without revealing summative scores. In a randomized controlled study (N = 100 medical students), participants were assigned to either a multi-agent (MA) scaffolding condition or a control condition. All students completed two learning sessions under their assigned condition followed by an examination conducted in a patient only environment. Performance was assessed using a standardized Objective Structured Clinical Examination (OSCE) based rubric. While no significant difference was observed in final diagnostic accuracy between groups, the multi-agent AI standardized patient system improved final examination scores compared to the control group utilizing structured progressive information disclosure; the most substantial and consistent improvements were observed in communication, the expression of empathy, and specific history-taking behaviors. These findings suggest that specialized LLM agents enhance the process quality of simulated clinical interviews without artificially inflating examination outcomes. To support future research, we release a multi-expert annotated dataset comprising transcripts, checklist annotations, turn-level evaluations, and OSCE-aligned scoring outcomes. This resource aims to facilitate the development of pedagogically grounded AI-SP systems and advance research on AI-supported clinical reasoning training.
https://arxiv.org/abs/2609.10939
Diffeomorphic image registration is central to medical image analysis, enabling anatomically consistent alignment across subjects. Most learning-based diffeomorphic methods model autonomous ODEs(ordinary differential equations) by parameterizing a stationary velocity field and recovering deformations via scaling-and-squaring. While non-autonomous ODEs with time-dependent velocities increase expressiveness, existing approaches rely on numerical integration to implicitly enforce flow structure that entangles model expressiveness with discretization accuracy. We propose a framework to directly learn the continuous-time solution of a non-autonomous ODE formulated as a two-parameterflow map. By enforcing cocycle consistency, a fundamental structural property of time-varying flows, we learn the flow maps without time discretization and velocity integration during training. The framework recovers diffeomorphic mappings at inference using a small number of compositions. Our proposed framework seamlessly incorporates standard registration backbones and improves alignment accuracy consistently across nine datasets while preserving diffeomorphic structure. Notably, the proposed method achieves an average Dice improvement of 2.1% on brain MRI benchmarks, a 12% TRE reduction on lung CT, and a 2.6% Dice gain on cardiac MRI and ultrasound datasets.
https://arxiv.org/abs/2609.10789
One-Pixel Attacks (OPAs) represent one of the most extreme demonstrations of adversarial fragility in deep learning, where modifying a single pixel can reliably induce high-confidence misclassification across domains such as medical diagnosis, autonomous driving, biometrics, and quantum communication. Despite their conceptual simplicity, OPAs remain underexamined in existing adversarial-attack surveys, which provide only fragmented or cursory coverage. This PRISMA-guided review synthesizes high-quality studies from 2017 to 2026 and delivers a unified, multi-axis taxonomy of OPA research spanning algorithmic foundations, black-box evolutionary optimization, emerging hybrid and program-synthesis attacks, defence mechanisms, interpretability tools, and domain-specific vulnerabilities. Our analysis reveals the dominance of Differential Evolution-based strategies, the rise of efficiency-optimized and saliency-guided methods, and persistent gaps in dataset diversity, transferability, and standardized evaluation. We summarized and assess defence paradigms including pixel restoration, anomaly detection, input-space transformations, and robust training highlighting their trade-offs in robustness, imperceptibility, and computational overhead. Building on these insights, we outline future research priorities involving selective pixel recovery, transformer-specific vulnerability analysis, saliency-driven optimization, and real-world domain-adaptive defences. We further propose a regulatory framework emphasizing robustness testing, incident disclosure, and AI security governance. This review establishes a comprehensive foundation for understanding, evaluating, and mitigating ultra-sparse adversarial threats in contemporary AI systems.
https://arxiv.org/abs/2610.00125
Background: Emergency Department (ED) return visits are commonly reviewed for quality assurance, but are often limited (e.g., to revisits within 48-72 hours) to increase actionable finding yield while minimizing chart review burden. Those limitations may lead to missed quality improvement opportunities. Methods: We conducted an exploratory, retrospective study of randomly selected ED visits to a multihospital health system having an ED revisit within 1-14 days to the same health system. Given only each visit's primary diagnosis, raters (2-3 clinicians and GPT-4 large language model [LLM]) assessed characteristics of the diagnosis pairs, including the "target": whether a pair warranted further assessment. Informed by rater response analyses, an algorithm leveraging an LLM-populated knowledge graph ("KGA") was created to automatically screen for potentially concerning pairs, then preliminarily assessed. Results: 99 diagnosis pairs were included. GPT-4 responses poorly correlated to clinician raters, rating nearly all (94%) pairs as warranting follow-up (4.4-13.3 times more than clinicians). However, prompt engineering was minimal. Among clinician raters, revisit medical gravity was consistently significantly associated with the target, while a differential diagnosis/complication composite was significantly associated on unadjusted, but not adjusted (though less powered) analysis. The KGA achieved 83-100% positive predictive value for at least one clinician rater determining further assessment was warranted based on the diagnosis pair. Conclusion: These results can inform next steps for improving screening with LLMs like ChatGPT. Further research is warranted to validate this preliminary work's finding that the KGA may enable enhancing the scope and yield of screening without substantially increasing reviewer workload.
https://arxiv.org/abs/2609.10421
Simultaneous assessment of medical imaging and patient records is often required in clinical diagnosis. However, standard machine learning algorithms cannot analyze these data types together. Meanwhile, compliance with HIPAA and GDPR can constrain centralized aggregation of sensitive patient data. This leaves a crucial void of secure fusion of visual and textual context across distant networks. Thus, we present OmniMed-FL, a controlled systems study of multimodal federated learning for five-class clinical condition classification (Normal, Pneumonia, COVID-19, Pleural Effusion, Cardiomegaly). Our proxy corpus pairs 3,000 public chest radiographs with 3,000 class-conditioned synthetic notes, matched by class, not by patient. The framework benchmarks eight fusion strategies, three initializations, four missing-text imputation rules, and matched federated baselines under non-IID Dirichlet partitioning across 3 to 20 hospital clients. As all notes are synthetic and pairing is not patient-level, these are descriptive proxy comparisons, not estimates of diagnostic performance or deployment readiness. Within those limits with clients ($K=5$) and severe skew ($\alpha=0.1$), local-only training achieves a macro-F1 score of 0.297, FedAvg achieves $0.662\pm0.074$, FedProx $0.737\pm0.085$, a matched FedMME-style one-shot ensemble $0.647\pm0.080$, and our SCAFFOLD-AdamW adaptation $0.070\pm0.015$, the 0.075 FedProx-FedAvg gap falling inside the wider of the two two-seed standard deviations. Over a $4\times3$ grid, label skew costs up to 0.27 F1 whereas a near-sevenfold client increase costs at most 0.10, while bidirectional volume grows linearly to 183.5 GiB at $K=20$. Multimodal fusion leads on both corpora, scoring 0.956 against 0.934 for text and 0.664 for images on the synthetic corpus and 0.906 against 0.880 and 0.737 on the radiograph corpus, for $2.3\times$ the model state of text alone.
https://arxiv.org/abs/2609.10364
Uncertainty estimation for medical vision--language models (VLMs) using conformal prediction has gained increasing attention due to its distribution-free coverage guarantees. However, standard conformal prediction relies on exchangeability between calibration and test data and typically requires a sufficiently large calibration set to obtain reliable coverage. These assumptions are difficult to satisfy in few-shot transfer settings, where only a small labeled support set is available to adapt a pretrained VLM to a new medical task, while an unlabeled query set is used for evaluation. Supervised fine-tuning on the support set changes the model parameters and consequently shifts the nonconformity score distribution, breaking exchangeability between calibration and query samples and leading to unreliable coverage under distribution shift. Existing transductive conformal adaptation methods often preserve validity by avoiding supervised updates. While this helps maintain conformal assumptions, it underutilizes the scarce labeled support data and limits task adaptation, which is the primary objective in few-shot learning. In this setting, conformal prediction should serve as an uncertainty estimation layer that supports the adapted model, rather than preventing adaptation itself. To this end, we propose AlignCP, a framework that reconciles supervised few-shot adaptation with conformal uncertainty estimation under non-exchangeability. AlignCP learns a reweighted calibration distribution that reduces the score-level discrepancy between the labeled support set and the unlabeled query set. By aligning the one-dimensional nonconformity score distributions, AlignCP aims to close the coverage gap induced by adaptation without requiring query labels.
https://arxiv.org/abs/2609.10333
Multi-modal medical image segmentation leverages complementary diagnostic information, yet fusion can underperform single-modality baselines when spatially aligned inputs differ in quality. Here, "corruption" primarily denotes resolution-induced degradation rather than misalignment or complete modality absence, while synthetic noise is evaluated only as an auxiliary setting. We identify a critical optimization-inference inconsistency: degraded modalities can receive weak training updates yet substantially affect predictions, indicating active interference with fusion. We attribute this failure to resampling-induced feature corruption and optimization bias, where noisy features propagate through skip connections and encourage unreliable modality selection. We therefore propose CoReFuse-Med, a Corruption-aware Rebalanced Fusion framework that suppresses corruption during feature transmission and rebalances modality contributions during high-level fusion. Experiments on EPVS, BraTS, and WMH, including multiple Z-axis slice-retention ratios and an auxiliary noise test, demonstrate improved accuracy and robustness under modality-quality discrepancies. Our code is available at this https URL.
https://arxiv.org/abs/2609.10261
Lung cancer is one of the leading causes of death worldwide, and its early diagnosis is crucial to improving patients prognosis and quality of life. However, the process of interpreting medical images for the detection of lung cancer is complex and requires trained experts. In this context, artificial intelligence (AI) and deep learning (DL) emerge as potential tools to automate and optimize image analysis. The objective of this work is to review the most recent and relevant applications of AI and DL in the field of radiology for the detection of lung cancer. To this end, an exhaustive search was carried out in scientific databases such as PubMed,IEEEXPLORE, Scopus and Web of Science, and 96 articles published from 2015 to the present addressing the use of AI and DL in biomedical engineering were selected. Emphasis is placed on the use of convolutional neural networks (CNN) with transfer learning and Data Augmentation as promising techniques to improve the accuracy and efficiency of the image interpretation process. The results show that the use of AI and DL can offer an effective alternative for the early diagnosis of lung cancer, with high sensitivity and specificity. However, current limitations and challenges that must be addressed to guarantee its responsible and safe application in clinical practice are also identified, such as the lack of standardized data, the ex plainability of the models, patient privacy, and the ethical and social implications. It is concluded that the use of AI and DL can have a positive impact on the care of patients with lung cancer, but further research and regulation are required to ensure its quality and reliability.
https://arxiv.org/abs/2609.10652
Aging clocks quantify biological aging and help characterize individual health status. What protein interactions are important for accurate aging clocks, and are they zeroth-order or higher-order? Addressing these questions requires learning from large molecular datasets distributed across medical centers, where privacy constraints prevent centralized data sharing. Federated learning offers a natural solution but faces four challenges in this setting: limited local sample sizes, sparse and directional inter-center trust, the need to retain discriminative age prediction while supporting interpretation, and model drift and forgetting under heterogeneous cross-center data. We propose TNFL, a trust-network-based federated learning framework that progressively propagates models along directed pairwise trust relations without centralized aggregation. TNFL combines an age-aware mixture-of-experts model with generative replay to preserve previously learned information and reduce forgetting and drift. Experiments across multiple molecular datasets show that TNFL enables effective aging-clock prediction with limited local data, provides interpretable age-dependent prediction patterns, and maintains stable performance across interaction orders. To investigate the biological questions, we analyze TNFL-identified pairwise protein interactions and their higher-order organization through functional and network analyses. The identified interactions repeatedly form coordinated higher-order subnetworks spanning multiple aging-related biological systems, with several proteins recurring across subnetworks. These findings suggest that TNFL captures molecular relationships beyond isolated pairwise associations and reveals coherent higher-order biological organization associated with aging.
https://arxiv.org/abs/2609.10108
Biomedical ontology normalization maps free-text expressions to standardized concepts, enabling consistent integration and analysis of biomedical data. This task remains challenging because lexical variation and subtle distinctions among hierarchically related concepts can obscure concept boundaries. We present OntologyAligner, a three-stage framework that combines ontology-aligned retrieval, large language model candidate reranking, and selective hierarchy-guided refinement. We also construct PhenoNormBench, a unified benchmark comprising 13,390 samples from seven Human Phenotype Ontology datasets. OntologyAligner achieved state-of-the-art performance on HPO normalization, with 88.78% Macro Top-1 Accuracy and 86.75% Micro Top-1 Accuracy, exceeding the strongest baseline by 4.85 and 5.07 percentage points, respectively. Ablation analyses showed complementary contributions from all three stages, and sensitivity analyses demonstrated stability across candidate-set sizes and model backbones. Applications to MONDO, MEDIC, and NCBITaxon further established portability to other ontologies. OntologyAligner offers a generalizable framework for accurate mapping of biomedical text to structured ontology concepts. PhenoNormBench and the code are publicly available at this https URL.
https://arxiv.org/abs/2609.10055
Clinical notes contain personally identifiable information (PII), restricting reuse for research and medical AI, especially when data cannot leave an institution. We developed MedDeID, an on-premises framework combining in-house annotation and synthetic-note generation with model training, inference, pseudonymisation and evaluation. On an independently annotated, adjudicated 300-note Dutch hospital benchmark, a hospital-trained compact transformer detected 98.9% of identifying text while redacting 0.24% of text outside annotated identifiers; a synthetic-only counterpart detected 96.1%. On 100 primary-care notes, the synthetic-trained model achieved higher recall than the hospital-trained model (90.3% versus 87.0%) and greater robustness to identifier-format perturbations. An English instantiation trained without real text detected 99.7% and 98.9% of annotated identifier characters on two external synthetic benchmarks. These results demonstrate transfer of the workflow to another language, but not clinical English performance. MedDeID provides a route to locally governed de-identification using real or synthetic training data.
https://arxiv.org/abs/2609.10049
Few-shot medical image segmentation (FSMIS) seeks to delineate unseen structures from a small support set, but its standard formulation fixes task-defining evidence before inference. This assumption is fragile when query cases exhibit acquisition shift, atypical pathology, ambiguous boundaries, or poor image quality. Prototype learning, cross-domain matching, interactive segmentation, uncertainty estimation, test-time adaptation, and promptable foundation models address parts of this problem, yet have not been jointly evaluated under a common model of expert attention and clinical risk. This Perspective reframes FSMIS as a sequential clinician-model decision problem with a static support budget $K$ and a distinct interaction budget $B$. At each step, a system accepts the current segmentation, requests feedback, or defers to full expert review. Queries vary in location and modality and are selected by response-conditioned net expected value of information; clinician-provided feedback informs bounded adaptation only after prespecified provenance, consistency, and safety gates. The framework separates distributional atypicality from predicted clinical failure and treats clinician responses as informative but fallible observations. We synthesize the transition from few-shot and cross-domain segmentation to interactive and selective adaptation, delineate the integration gap, and define four research directions with falsifiable hypotheses. Evaluation spans external-domain calibration, quality-effort trade-offs, reader studies, and prospective workflow assessment. The central claim is not that interaction alone resolves domain shift, but that scarce expert attention should be allocated only when it is expected to reduce clinically relevant risk.
https://arxiv.org/abs/2609.10001
Choosing a deep learning architecture for label-free single-cell classification remains an open question, with microscopy benchmarks reporting conflicting conclusions about CNNs versus transformers. We present a controlled benchmark on LIVECell phase-contrast microscopy data using source-image-disjoint train/validation/test splits to prevent parent-image leakage and matched optimisation, augmentation, and evaluation protocols across EfficientNet, Vision Transformer (ViT), and EVA-02 models. This allows the effects of architecture, pretraining, fine-tuning, tokenisation, and distillation to be disentangled. We find that the previously reported CNN advantage is largely explained by pretraining rather than architecture: the smallest pretrained model outperforms the strongest model trained from scratch despite far fewer parameters. Pretraining improves macro-F1 by 3-4 points, while the gap between the best pretrained CNN and transformer is below 0.5 points. Architectural choices nevertheless matter: ViT-S/8 outperforms ViT-S/16 and matches the four-times-larger ViT-B/16 at a quarter of the parameters, showing that finer tokenisation benefits small cell crops. Conversely, layer-wise learning-rate decay, central to the EVA-02 fine-tuning recipe, degrades performance, highlighting that transfer heuristics from natural-image recognition may not generalise to microscopy. Finally, knowledge distillation substantially improves the deployment frontier: compact EfficientNet-B0 students distilled from teacher councils outperform every individually trained backbone, including the EfficientNet-B5 and EVA-02 teachers. Overall, our results show that rigorous control of pretraining and evaluation is essential for interpreting biomedical architecture benchmarks, while distillation may be a more effective route to practical single-cell classification than architecture choice alone.
https://arxiv.org/abs/2609.09863
Large language models are increasingly proposed as automated auditors of document quality, yet their reliability as detectors of planted errors is poorly characterised. We construct a contaminated corpus of 150 academic papers spanning supply chain management and medical research, injecting 450 known contaminants of three types: typographical corruption, semantic reversal, and absurd out-of-context insertion. We then evaluate Google Gemini 3.0 Pro's ability to recover a 180-contaminant answer-key subset across 60 documents under three prompting regimes of increasing scale: single document, small batch, and large batch. Detection holds at small scale and then collapses: 50% recovery on single documents, 60% on small batches, and 2.8% on large batches. The failure mode at scale is not abstention but fabrication. Rather than reporting incomplete processing, the model produced confident findings including invented contaminants of its own, absurdities such as "telepathic squirrel" and "quantum-powered toaster" that mimic the style of the planted material but do not appear in any document. Detection also varies by contamination type: absurd insertions were recovered at 75% in completed evaluations, while semantic reversals and typographical corruptions were each recovered at only 50%. The corruptions most likely to occur in the wild, plausible ones, are the ones most often missed. We conclude that LLM document auditing degrades not gracefully but deceptively, and outline the harness such systems require: bounded batch sizes, direct content injection, and mechanical verification of every reported finding against source text.
https://arxiv.org/abs/2609.09696
Medical question-answering datasets often contain answer labels, whereas high-quality rationales remain scarce, noisy, or costly to validate. This changes the acquisition question: rather than asking which questions should be labeled, we ask which already-labeled questions should receive rationale supervision under a fixed token budget. We study an offline version of this problem in which candidate rationales are visible to the selector but withheld from downstream training unless selected. We propose root-mean-square Robustness-based Sample Prioritization (RMS-RSP), which perturbs hidden states only at rationale tokens and measures the resulting shift in the gold-versus-best-distractor margin. Across five medical QA datasets, MedGemma-4B-IT, three training seeds, ten budgeted non-RSP selectors, and an unbudgeted full-supervision reference, RMS-RSP provides a deliberately qualified result. Its locked-budget accuracy is 60.61% on average versus 60.08% for Random, with a statistically resolved gain only on AfriMed-QA (+1.44 points). Its full-budget accuracy area is not better than Random. However, after three answer-option reorderings, RMS-RSP improves robust accuracy and semantic consistency by 1.91 and 2.85 points on average, respectively, with the same direction on all five datasets. Training on every pool rationale raises macro accuracy to 63.74%, but consumes 29--254 times more rationale tokens and does not uniformly improve robustness. These findings do not establish universal accuracy gains; they instead suggest that rationale-local boundary sensitivity can identify supervision that improves invariance to semantically equivalent formatting changes.
https://arxiv.org/abs/2609.09684
Large networks and ensembles often lead medical image segmentation challenges, but their storage and inference demands complicate deployment. We present LightMedSeg-ISLES, a 1.26-million-parameter pipeline for T1-weighted stroke lesion segmentation in ISLES'26. On a 146-case held-out cohort, flip test-time augmentation produces 0.618 mean Dice and 0.599 lesion-wise F1. A 102.35-million-parameter nnU-Net ResEnc-L produces 0.634 Dice and 0.544 lesion-wise F1 after size filtering. LightMedSeg therefore retains 97.5\% of nnU-Net's Dice with 81.4$\times$ fewer parameters while improving lesion-wise F1 by 0.055. Its four-pass TTA operating point requires 4.7$\times$ fewer FLOPs per standardized patch than nnU-Net. It also slightly exceeds filtered UNETR++ and nnFormer. Longer training and stronger augmentation add 0.0358 Dice without increasing capacity, establishing a strong single-checkpoint alternative to much larger models.
https://arxiv.org/abs/2609.09634
At Noora Health, our nurses answer more than 50,000 medical queries per month on our WhatsApp-based service that provides caregivers with on-demand support. Their most time-critical task is emergency triage: deciding which queries need immediate in-person attention. To support them, we built a system that uses a large language model (LLM) to classify whether a message is an emergency and provide a rationale for interpretability. But the system was opaque: analyzing mistakes meant reading reasoning chains for each message, which is infeasible at our scale. Prompt changes meant re-running a full evaluation to prevent regressions, which was both costly and operationally challenging. Clinicians follow a decision tree to make this call, but it was never documented or passed to the model, which relied on a flat list of danger signs. To address these issues, we decomposed triage into two steps: an LLM extracts canonical symptoms and patient context from the query using a clinician-authored vocabulary, and a deterministic rule engine captures the scenarios that indicate an emergency. We show that the new system raised recall from 0.565 to 0.810 and F1 from 0.606 to 0.702, with structured rules driving most of the accuracy gains while the decomposition provides auditability: clinical experts can inspect each stage of the new system to see whether the query was mistranslated, symptoms were incorrectly extracted, patient context was wrongly inferred, or the necessary rules were missing. They can add new rules independently without causing regressions and avoid running costly evaluations. Since deployment, the new system has triaged 152,421 patient queries and flagged 28,535 (18.7%) as emergencies. The over-escalation rate has been 17.8%, without any increase in missed emergencies. Clinicians have also added 48 new rules since deployment, evidence of the faster correction loop we set out to build.
https://arxiv.org/abs/2609.09356
The digitization of healthcare has generated vast, longitudinal, and multimodal patient records over a lifetime, yet fully exploiting these data to represent and predict patient state trajectories remains a critical challenge. Current AI models often struggle to capture the complex, irregular temporal dynamics and inherent stochasticity of real-world multimodal patient data. Existing AI approaches for modeling longitudinal patient records are predominantly discriminative, limited to a few modalities, constrained by closed categorical vocabularies, treating time as a monotonic inductive bias, or they are limited in forecasting future patient states. We introduce NOAH, a time-aware, task-agnostic, generative transformer model representing and forecasting the full multimodal patient journey. NOAH features a novel bidirectional time integration and a variational latent space to capture the continuous evolution of patient states and the stochasticity of clinical trajectories. Built from over 559 million clinical events from 431,000 hospital visits of 299,000 patients across the MIMIC dataset family, NOAH natively processes medical images, time-series and numeric signals, categorical events, as well as structured and unstructured clinical records. NOAH is the first truly holistic generative model in its field, enabling autoregressive forecasting with optional time control, zero-shot classification, and counterfactual intervention simulation. It generates highly informative and predictive patient state representations that demonstrate strong performance in probing for clinical outcomes, 15 ICD chapters, and 29 comorbidities, as well as in time-to-event prediction. Seamlessly handling diverse modalities and complex temporal dynamics, NOAH provides a versatile, task-agnostic, scalable foundation for intelligent predictive systems in personalized clinical care and digital medicine.
https://arxiv.org/abs/2609.09140
Whether a language model looks demographically biased can depend on how the audit asks its question. A charitable-aid benchmark reports that the same models favor minority applicants when rating requests one at a time and penalize some when ranking side by side. We test whether that reversal generalizes to hiring, lending, and medical triage: 40,726 requests to five models, applications differing only in the applicant's name, and a primary test fixed before collection. It does not. None of 36 planned contrasts survives correction. The rating advantage keeps its sign at roughly half the published size, and a precision extension bounds any hiring ranking penalty below the published effect, though the lending and triage ranking floors sit above that margin, so the exclusion is conclusive for hiring ranking and for rating in all three domains only. Planted disparities tracking their injected sizes and a directional replication on the original aid materials bound these nulls. The audit is livelier than the demographics: models recognize transparent audits nearly always, tie every identical-content comparison whether the varying detail is race or a hobby, and reward first-listed candidates as much as any demographic effect we measure. Audit verdicts reflect audit construction more than demographic bias.
https://arxiv.org/abs/2609.09048
We introduce OntologyBench, a tiered biomedical retrieval benchmark comprising 471,854 training and 125,744 evaluation query-document relevance pairs across concept grounding, relational retrieval, and compositional phenotype-based retrieval. Although these tasks can be tractable using ontology-aware reference methods, across task tiers, embedding performance is generally lower on relational and compositional tasks than on concept-grounding tasks. Fine-tuning on ontology-derived supervision improves performance on several relational and compositional tasks, whereas the evaluated reranking and LLM-based candidate-scoring methods provide little or no end-to-end improvement. Errors frequently reflect diseases matching only subsets of the phenotype evidence. These findings indicate that the evaluated embedding and reranking configurations do not reliably recover the compatibility encoded by the selected ontology relations and phenotype combinations and motivate retrieval systems that better integrate learned representations with structured biomedical knowledge.
https://arxiv.org/abs/2609.08174