DeepFace: Deep-learning-based framework to contextualize orofacial-cleft-related variants during human embryonic craniofacial development.

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第一作者： Yulin,Dai

第一单位： Center for Precision Health, McWilliams School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.

作者： Yulin,Dai ^[1] ; Toshiyuki,Itai ^[1] ; Guangsheng,Pei ^[1] ; Fangfang,Yan ^[1] ; Yan,Chu ^[2] ; Xiaoqian,Jiang ^[2] ; Seth M,Weinberg ^[3] ; Nandita,Mukhopadhyay ^[4] ; Mary L,Marazita ^[5] ; Lukas M,Simon ^[6] ; Peilin,Jia ^[1] ; Zhongming,Zhao ^[7]

作者单位： Center for Precision Health, McWilliams School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA. ^[1] Center for Secure Artificial Intelligence for Healthcare, McWilliams School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA. ^[2] Department of Oral and Craniofacial Sciences, School of Dental Medicine, Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, PA 15213, USA; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA. ^[3] Department of Oral and Craniofacial Sciences, School of Dental Medicine, Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, PA 15213, USA. ^[4] Department of Oral and Craniofacial Sciences, School of Dental Medicine, Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, PA 15213, USA; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA; Clinical and Translational Science Institute, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA. ^[5] Therapeutic Innovation Center, Baylor College of Medicine, Houston, TX 77030, USA. ^[6] Center for Precision Health, McWilliams School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, TX 77030, USA. Electronic address: zhongming.zhao@uth.tmc.edu. ^[7]

关键词 SNP activity difference prediction convolutional neural network epigenomic assay genome-wide association studies human?embryonic craniofacial development noncoding variant orofacial clefts variant function

主题词人类(Humans);腭裂(Cleft Palate);唇裂(Cleft Lip);多态性, 单核苷酸(Polymorphism, Single Nucleotide);表观基因组学(Epigenomics);胚胎发育(Embryonic Development)

DOI 10.1016/j.xhgg.2024.100312

PMID 38796699

发布时间 2024-11-13

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HGG advances

2024年5卷3期

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DeepFace: Deep-learning-based framework to contextualize orofacial-cleft-related variants during human embryonic craniofacial development.

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DeepFace: Deep-learning-based framework to contextualize orofacial-cleft-related variants during human embryonic craniofacial development.

HGG advances

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HGG advances

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