Article
DeepFace: Deep-learning-based framework to contextualize orofacial-cleft-related variants during human embryonic craniofacial development.
HGG advances - 18 Jul 2024
Dai Yulin, Itai Toshiyuki, Pei Guangsheng, Yan Fangfang, Chu Yan, Jiang Xiaoqian, Weinberg Seth M, Mukhopadhyay Nandita, Marazita Mary L, Simon Lukas M, Jia Peilin, Zhao Zhongming
Abstract excerpt
Orofacial clefts (OFCs) are among the most common human congenital birth defects. Previous multiethnic studies have identified dozens of associated loci for both cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP). Although several nearby genes have been highlighted, the "casual" variants are largely unknown. Here, we developed DeepFace, a convolutional neural network model, to assess the...
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