A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization
一种多功能AI代理用于罕见病诊断和风险基因优先级排序
机构 * Interdepartmental Program in Computational Biology and Bioinformatics, Yale University(耶鲁大学计算生物学与生物信息学联合计划) ; Department of Biostatistics, Yale University(耶鲁大学生物统计学系) ; Broad Institute of MIT and Harvard(哈佛大学与麻省理工学院联合Broad研究所) ; Center for Biomedical Data Science, Duke-NUS Medical School(杜克-新加坡医学学校生物医学数据科学中心) ; Sport and Exercise Medicine Service, KK Women’s and Children’s Hospital Training Program, Duke-NUS Medical School(杜克-新加坡医学学校KK妇女儿童医院运动与医学服务培训项目) ; Training Program, Duke-NUS Medical School(杜克-新加坡医学学校培训项目) ; Department of Computer Science and Engineering, The Ohio State University(俄亥俄州立大学计算机科学与工程系) ; Department of Complexity Science and Engineering, The University of Tokyo(东京大学复杂科学与工程系) ; Center for Advanced Intelligence Project, RIKEN(日本理化学研究所高级智能项目中心) ; NUS Artificial Intelligence Institute, National University of Singapore(新加坡国立大学人工智能研究所) ; Department of Biostatistics and Bioinformatics, Duke University(杜克大学生物统计学与生物信息学系) ; Department of Biomedical Data Science, Stanford University(斯坦福大学生物医学数据科学系) ; Department of Genetics, Yale University(耶鲁大学遗传学系) ; Wu Tsai Institute, Yale University(耶鲁大学吴天教授研究所) ; Department of Biomedical Informatics and Data Science, Yale University(耶鲁大学生物医学信息学与数据科学系)
AI总结 本文提出Hygieia系统,通过整合多源数据提升罕见病诊断准确性与风险基因优先级排序能力,实验表明其在多个诊断基准上表现优异,有效减轻临床工作负担。
Comments 32 pages, 6 figures