GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors
Tzung‐Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, Nadja Ehmke, Karen Webster Gripp, Jean Tori Pantel, Magdalena Danyel, Martin A. Mensah, Denise Horn, Stanislav Rosnev, Nicole Fleischer, Guilherme Bonini, Alexander Hustinx, Alexander Schmid, Alexej Knaus, , Peter Michael Krawitz
GestaltMatcher improves diagnosis of ultra-rare genetic disorders by matching facial phenotypes to molecular diagnoses using a deep learning model trained on a large dataset of patient photographs.
Nature Genetics · Feb 10, 2022Peer-reviewedGenetic & Genomic Medicine