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A 3D Clinical Face Phenotype Space of Genetic Syndromes Using a Triplet-Based Singular Geometric Autoencoder.

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第一作者： Soha S,Mahdi

第一单位： ETRO, Vrije Universiteit Brussel, 1050 Ixelles, Belgium.

作者： Soha S,Mahdi ^[1] ; Eduarda,Caldeira ^[2] ; Harold,Matthews ^[3] ; Michiel,Vanneste ^[4] ; Nele,Nauwelaers ^[5] ; Meng,Yuan ^[5] ; Giorgos,Bouritsas ^[6] ; Gareth S,Baynam ^[7] ; Peter,Hammond ^[4] ; Richard,Spritz ^[8] ; Ophir D,Klein ^[9] ; Michael,Bronstein ^[10] ; Benedikt,Hallgrimsson ^[11] ; Hilde,Peeters ^[4] ; Peter,Claes ^[3]

作者单位： ETRO, Vrije Universiteit Brussel, 1050 Ixelles, Belgium. ^[1] ESAT/PSI-UZ Leuven, MIRC, KU Leuven, 3000 Leuven, Belgium.;Faculty of Engineering, University of Porto, 4200-465 Porto, Portugal. ^[2] ESAT/PSI-UZ Leuven, MIRC, KU Leuven, 3000 Leuven, Belgium.;Department of Human Genetics, KU Leuven, 3000 Leuven, Belgium. ^[3] Department of Human Genetics, KU Leuven, 3000 Leuven, Belgium. ^[4] ESAT/PSI-UZ Leuven, MIRC, KU Leuven, 3000 Leuven, Belgium. ^[5] Archimedes AI Unit/Athena RC, Department of Informatics and Telecommunications, University of Athens, 115 28 Athens, Greece. ^[6] School of Earth and Planetary Sciences, Faculty of Science and Engineering, Curtin University, Perth, WA 6102, Australia.;Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, WA 6008, Australia. ^[7] School of Medicine, Human Medical Genetics and Genomics Program, University of Colorado, Aurora, CO 80918, USA. ^[8] Department of Orofacial Sciences, Institute for Human Genetics, University of California at San Francisco, San Francisco, CA 94143, USA.;Department of Pediatrics, Institute for Human Genetics, University of California at San Francisco, San Francisco, CA 94143, USA. ^[9] Department of Computer Science, University of Oxford, AX1 3QD Oxford, U.K. ^[10] Cumming School of Medicine, Department of Cell Biology and Anatomy, University of Calgary, Calgary, AB T2N 1N4, Canada.;Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 1N4, Canada. ^[11]

关键词 3D shape analysis clinical genetics computer-aided diagnosis deep phenotyping geometric deep learning precision public health

DOI 10.1109/access.2024.3524428

PMID 40808971

发布时间 2025-08-17

基金项目

R01 DE027023/DE/NIDCR NIH HHS/United States

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A 3D Clinical Face Phenotype Space of Genetic Syndromes Using a Triplet-Based Singular Geometric Autoencoder.

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A 3D Clinical Face Phenotype Space of Genetic Syndromes Using a Triplet-Based Singular Geometric Autoencoder.

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