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:2610.09288v1 Announce Type: cross Abstract: Many rare genetic diseases are associated with recognizable craniofacial features. However, traditional approaches for describing facial morphology r...
arXiv:2610.28766v1 Announce Type: new Abstract: The development of face recognition has been strongly supported by the availability of large-scale training datasets. Among them, MS-Celeb-1M has playe...
arXiv:2608.28923v1 Announce Type: cross Abstract: Data augmentation is a cornerstone of deep learning pipelines, yet existing strategies treat it as a static, model-agnostic preprocessing step, eithe...
arXiv:2409.17685v3 Announce Type: replace Abstract: Hypomimia has drawn growing interest as a digital marker for screening Parkinson's disease (PD). However, developing reliable facial-expression-bas...
arXiv:2606. 25770v1 Announce Type: new Abstract: Data scarcity is a major bottleneck in medical Multiple Instance Learning (MIL), especially for rare diseases or expensive modalities.
arXiv:2606. 10250v1 Announce Type: cross Abstract: Class imbalance is a common problem in deep learning that severely degrades performance.
The study examines why dermatology AI models, largely trained on light‑skinned, cancer‑focused images, perform poorly when applied to diverse patient populations. By comparing a cancer‑trained baseline, two dermatology foundation models, and a general‑purpose vision model on tone‑stratified and disease‑shifted datasets, the authors find that disease‑distribution shift, rather than skin‑tone underrepresentation, is the primary cause of generalization failure. Representation analysis shows that cancer‑specialized features lack transferable structure, while dermatology‑pretrained features maintain stronger clustering, and lightweight adaptation with about ten labeled examples per category can recover most performance.
arXiv:2608.28787v1 Announce Type: new Abstract: Joint-embedding predictive architectures (JEPAs) have primarily been developed for self-supervised representation learning. Denoising JEPA (D-JEPA) rec...
arXiv:2512.15774v5 Announce Type: replace Abstract: The absence of large-scale masked face datasets challenges masked face detection and recognition. We propose a two-step generative data augmentatio...
The paper introduces an Early Intervention (EI) framework for multimodal medical image classification that addresses two key challenges: limited exploitation of complementary multimodal information and scarcity of labeled data for Vision Foundation Models (VFMs). EI treats one modality as the target and uses high‑level semantic tokens from other modalities as intervention tokens to guide the target’s embedding early in the process. The authors also propose Mixture of varied‑rank LoRAs (MoR) for efficient VFM adaptation, and demonstrate the method’s effectiveness on retinal, skin, and knee medical image datasets.