BioengineeringbioRxiv
A 3D Clinical Face Phenotype Space of Genetic Syndromes using a Triplet-Based Singular Geometric Autoencoder
S. S. Mahdi, E. Caldeira, H. Matthews…·P. Claes
This paper develops a triplet-based geometric autoencoder to create a clinical face phenotypic space for syndrome diagnosis, showing it can classify syndromes, generalize to new ones, and preserve genetic disease relationships.