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: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.
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.
arXiv:2608. 08926v1 Announce Type: new Abstract: Neuroimaging and genetic testing are two important clinical references for nervous system diseases, offering complementary diagnostic information.
Acne vulgaris affects most adolescents and many adults. Accurate severity grading guides treatment, monitoring, and clinical trial endpoints, but manual assessment using the Investigator's Global Assessment or Hayashi criteria is limited by inter-rater variability and inconsistent imaging conditions.
arXiv:2607. 06254v1 Announce Type: cross Abstract: Deepfake image detection is currently served by three fundamentally different paradigms: commercial APIs, zero-shot vision-language models (LLMs), and open-source detectors.
arXiv:2607. 24878v1 Announce Type: cross Abstract: Phenotype-driven diagnostic benchmarks usually report the rank of the reference disease, but they rarely reveal which plausible alternatives are ranked above it or what evidence a tool-using model examines before making its decision.
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:2607. 07673v1 Announce Type: cross Abstract: Medicine is inherently multimodal, requiring clinicians to synthesize information across diverse data streams.