3 papers
cs.CV2026
Multi-Level Evidence Aggregation for Robust Facial Phenotype Retrieval in Rare Genetic Disorder Prioritization
Alexander Hustinx, Carolin Kaffiné, Behnam Javanmardi +2
AI-assisted facial phenotyping supports rare genetic disorder prioritization by retrieving visually similar diagnosed cases from facial image reference databases such as the Gestal…
cs.CV2026
Hierarchical Classification via Cascading Feature Elimination: Application to Human Phenotype Ontology-Aligned Facial Phenotyping (FaceMesh2HPO)
Fabio Hellmann, Alexander Hustinx, Benjamin D. Solomon +5
FaceMesh2HPO is a framework for classifying facial phenotypic descriptors aligned with the Human Phenotype Ontology (HPO) to support clinical diagnosis. Using annotations from 124…
q-bio.QM2026
GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Text
Da Wu, Zhanliang Wang, Hongzhuo Chen +12
Individuals with suspected rare genetic disorders often undergo multiple clinical evaluations, imaging studies, laboratory tests, and genetic tests over a prolonged period of time,…