A 3D Clinical Face Phenotype Space of Genetic Syndromes using a Triplet-Based Singular Geometric Autoencoder
S. S. Mahdi, E. Caldeira, H. Matthews, M. Vanneste, N. Nauwelaers, M. Yuan, S. Gong, G. Bouritsas, G. S. Baynam, P. Hammond, R. Spritz, O. D. Klein, M. Bronstein, B. D. Hallgrimsson, H. Peeters, 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.
bioRxiv · Dec 27, 2022Bioengineering