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.
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:2608. 08926v1 Announce Type: new Abstract: Neuroimaging and genetic testing are two important clinical references for nervous system diseases, offering complementary diagnostic information.
arXiv:2606. 20037v1 Announce Type: new Abstract: Alzheimer's disease (AD) is an irreversible neurodegenerative disorder and a leading cause of death worldwide.
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:2606. 11794v1 Announce Type: cross Abstract: Neurodegenerative diseases such as Alzheimer's disease (AD) require accurate and scalable tools for assessing disease severity, yet current clinical staging remains time-intensive and prone to variability.
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:2607. 03581v1 Announce Type: cross Abstract: The widespread adoption of facial masks, accelerated by COVID-19 and mandated in security-sensitive settings, has exposed limitations of conventional face recognition systems.
arXiv:2606. 29106v1 Announce Type: cross Abstract: Neurological disorders involve diverse pathologies of the brain and nervous system, making early and accurate detection essential.
Color Fundus Photography (CFP) is a primary non-invasive imaging modality for large-scale screening of ophthalmic and systemic diseases. Existing surveys mainly summarize task-specific algorithms, datasets, or preprocessing techniques independently, lacking a unified perspective on their co-evolution with modern artificial intelligence.
arXiv:2607. 25933v1 Announce Type: cross Abstract: Clinical diagnostic evaluation should not only assess whether models can provide correct diagnoses, but also reflect the realities of clinical practice, including progressive disclosure of multimodal information, dynamic updating of diagnostic hypotheses, and continuous refinement of clinical reasoning.
arXiv:2606. 17115v1 Announce Type: cross Abstract: Foundation models (FMs) have emerged as powerful representation extractors for medical data, yet their generalizability to datasets under distribution shift remains underexplored.
arXiv:2607. 01814v1 Announce Type: new Abstract: Traditional Chinese Medicine (TCM) diagnosis, particularly through tongue inspection, faces persistent challenges in subjectivity and reproducibility.