3 papers
cs.CV2026
Hierarchical Classification via Cascading Feature Elimination: Application to Human Phenotype Ontology-Aligned Facial Phenotyping (FaceMesh2HPO)
Fabio Hellmann, Alexander Hustinx, Benjamin D. Solomon +4
FaceMesh2HPO is a framework for classifying facial phenotypic descriptors aligned with the Human Phenotype Ontology (HPO) to support clinical diagnosis. Using annotations from 124…
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…
q-bio.PE2020
A lower prevalence for recessive disorders in a random mating population is a transient phenomenon during and after a growth phase
Luis A. La Rocca, Julia Frank, Heidi Beate Bentzen +4
Despite increasing data from population-wide sequencing studies, the risk for recessive disorders in consanguineous partnerships is still heavily debated. An important aspect that…