no code implementations • 23 Dec 2023 • Da Wu, Jingye Yang, Cong Liu, Tzung-Chien Hsieh, Elaine Marchi, Justin Blair, Peter Krawitz, Chunhua Weng, Wendy Chung, Gholson J. Lyon, Ian D. Krantz, Jennifer M. Kalish, Kai Wang
Many rare genetic diseases have distinctive facial features, which can be used by artificial intelligence algorithms to facilitate clinical diagnosis, in prioritizing candidate diseases to be further examined by lab tests or genetic assays, or in helping the phenotype-driven reinterpretation of genome/exome sequencing data.
