AI-assisted facial phenotyping supports rare genetic disorder prioritization by retrieving visually similar diagnosed cases from facial image reference databases such as the GestaltMatcher Database (GMDB). Existing GestaltMatcher-based retrieval frameworks compare each test image with individual gallery images in a facial phenotype embedding space.
arXiv:2312. 15320v3 Announce Type: replace-cross Abstract: Individuals with suspected rare genetic disorders often undergo multiple clinical evaluations, imaging studies, laboratory tests, and genetic tests over a prolonged period of time, a process commonly described as the diagnostic odyssey.
arXiv:2605. 22547v3 Announce Type: replace-cross Abstract: Medical image diagnosis has achieved significant progress with deep learning, yet existing methods often rely on isolated visual evidence and lack the ability to effectively leverage similar cases and external knowledge.
arXiv:2511.22232v2 Announce Type: replace-cross Abstract: Multimodal large language models (MLLMs) are increasingly capable in medical imaging, yet most focus on single-image settings. Clinical inter...
arXiv:2607. 05585v1 Announce Type: cross Abstract: FaceMesh2HPO is a framework for classifying facial phenotypic descriptors aligned with the Human Phenotype Ontology (HPO) to support clinical diagnosis.
LENS‑GRF is a permutation‑invariant lesion evidence network that uses a Set‑Transformer and gated residual fusion to combine global facial context with localized lesion patches for four‑class acne severity grading. The framework integrates adaptive facial skin segmentation, a Vision Transformer prior, and a lesion set transformer that encodes spatial geometry, with a gating mechanism that modulates local residual contributions. In experiments on ACNE04 and PLSBRACNE01, the fully automated model achieved 80.82% accuracy, while using ground‑truth lesion annotations raised accuracy to 95.89% and a Quadratic Weighted Kappa of 0.9753; zero‑shot evaluation on the full cohort yielded 35.00% accuracy versus 42.50% for a global baseline, and oracle analyses on a 148‑subject cohort showed improved accuracy and QWK up to 47.97% and 0.5799.
arXiv:2605. 18419v2 Announce Type: replace-cross Abstract: Vision-language models (VLMs) can couple visual perception with open-ended clinical reasoning, making them attractive for computational histopathology.
arXiv:2605. 24253v2 Announce Type: replace-cross Abstract: Digital pathology archives increasingly contain multiple whole-slide images (WSIs) per case, capturing spatially distinct tumour regions and reflecting intrinsic morphological heterogeneity.
arXiv:2604. 19191v2 Announce Type: replace-cross Abstract: Deploying AI-based anomaly detection across diverse clinical imaging settings remains challenging because most existing methods rely on modality-specific architectures, anatomical priors, or extensive retraining, limiting their use as general-purpose screening tools.
arXiv:2606. 06407v1 Announce Type: cross Abstract: Medical imaging artificial intelligence has achieved strong performance in isolated image interpretation, but remains poorly aligned with radiological practice, where diagnosis and follow-up rely on comparison across prior studies and analogous reference cases.
UniAR is a unified framework that improves autism spectrum disorder (ASD) recognition by using multi-granularity prompt learning and a large multimodal model to generate diagnostic descriptions at word, phrase, and sentence levels. It aligns these semantic representations with visual evidence through a Mixture-of-Experts-based Multi-Scale Alignment Module, enabling robust ASD detection across heterogeneous data types. Experiments on four brain MRI and facial expression benchmarks show that UniAR outperforms state‑of‑the‑art methods, achieving 75.9% accuracy on MRI and 91.6% on facial benchmarks, with gains of 1.5 and 1.2 percentage points respectively.
arXiv:2608. 08926v1 Announce Type: new Abstract: Neuroimaging and genetic testing are two important clinical references for nervous system diseases, offering complementary diagnostic information.
arXiv:2609.14419v1 Announce Type: cross Abstract: Person re-identification (ReID) is essential for multi-camera surveillance and tracking, yet remains difficult due to viewpoint and illumination chan...