GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Text
GestaltMML:通过结合面部图像和临床文本的多模态机器学习增强罕见遗传病诊断
机构 * Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia(雷蒙德·G·佩尔曼细胞与分子治疗中心,费城儿童医院) ; Department of Mathematics, University of Pennsylvania(数学系,宾夕法尼亚大学) ; Department of Biomedical Informatics, Columbia University Irving Medical Center(生物医学信息学系,哥伦比亚大学伊万斯医疗中心) ; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY, USA(人类遗传学系,纽约州发育障碍基础研究机构,纽约州史泰登岛) ; Division of Human Genetics, Children’s Hospital of Philadelphia(人类遗传学部,费城儿童医院) ; Department of Pediatrics, Boston Children’s Hospital, Harvard Medical School(儿科系,波士顿儿童医院,哈佛医学院) ; Biology PhD Program, The Graduate Center, The City University of New York(生物学博士项目,纽约市立大学研究生中心) ; Department of Genetics, Perelman School of Medicine, University of Pennsylvania(遗传学系,宾夕法尼亚大学佩尔曼医学学院) ; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania(儿科系,宾夕法尼亚大学佩尔曼医学学院) ; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania(病理学与实验室医学系,宾夕法尼亚大学佩尔曼医学学院)
专题命中 多模态评测 :multimodal(title,abstract);分类 cs.CV、cs.MM
AI总结 研究针对罕见遗传病诊断难题,提出基于Transformer架构的多模态机器学习方法GestaltMML,整合面部图像、人口统计学信息和临床笔记,提升预测准确性,缩小诊断差距。
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