Ziqian Lin、Han Huang、Jiuming Wang、Liang Hong、Irwin King、Yu Li
作者机构
Department of Computer Science and Engineering, The Chinese University of Hong Kong, Sha Tin, Hong Kong SAR 999077, China.
Department of Computer Science and Engineering, The Chinese University of Hong Kong, Sha Tin, Hong Kong SAR 999077, China. Electronic address: liyu@cse.cuhk.edu.hk.
Predictors and prescribing patterns of definite anticholinergic medication use among community-dwelling older adults in Saudi Arabia: a retrospective multicenter cross-sectional study.
AI 靶点发现综述Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
Immunosenescence as a modifiable driver of neurodegenerative diseases: Pathways and multidimensional emerging strategies for Alzheimer's and Parkinson's diseases.
临床外显子组测序(ES)广泛用于疑似孟德尔病和罕见病的诊断,但许多患者初次分析后仍无法确诊,阴性或非诊断性结果并不一定排除遗传病因,因为基因组知识和患者表型会随时间演变。该叙述性综述检索PubMed/MEDLINE、Web of Science核心合集和Google Scholar,综合外显子再分析、变异重分类、动态报告及补充诊断方法的证据与实践考量。非诊断性ES结果可能反映技术和生物信息学局限、临床或家系信息不完整、基因-疾病知识演变、变异证据不确定或超出常规ES检测范围的遗传机制。结合更新表型信息、数据库、分析方法和家系证据的结构化再分析可发现额外诊断;变异重分类和动态报告更新支持纵向解读,次要发现和人工智能辅助流程需适当监管。再分析不足时,可机制导向升级至基因组测序、RNA测序、长读长测序、甲基化检测、生化检测或功能试验。结构化再分析和动态报告可将ES从一次性分子检测转变为纵向诊断过程,实施需透明的再分析标准、可追溯的解读、不确定性的适当沟通和可持续的实验室流程,以支持临床决策和精准医学。
Maria Concepción Tamayo-Ordoñez、María José García-Castillo、Francisco Alberto Tamayo-Ordoñez、Víctor de Jesús Suárez-Valencia、Atl Víctor Córdova-Quiroz、Víctor Hugo Ramos-García、Benjamín Abraham Ayil-Gutiérrez、Angel Virgilio Domínguez-May、Sara Luz Nahuat-Dzib、Juan Carlos Robles-Heredia、Marta Guadalupe Lizama-Gasca、Daniel Lozano-Venegas、Víctor Manuel Velasco-Rodríguez、Esmeralda Cazares-Sánchez、Grethel Díaz-Palafox、Yahaira de Jesús Tamayo-Ordoñez
作者机构
Facultad de Ciencias Químicas, Universidad Autónoma de Coahuila, Saltillo 25280, Mexico.
Unidad de Biotecnología, Centro de Investigación Científica de Yucatán A.C., Mérida 97200, Mexico.
Facultad de Química, Universidad Autónoma del Carmen, Ciudad del Carmen 24180, Mexico.
Facultad de Medicina, Universidad Autónoma de Coahuila, Saltillo 25280, Mexico.
Unidad Académica Multidisciplinaria Reynosa-Aztlán, Universidad Autónoma de Tamaulipas, Reynosa 88740, Mexico.
SECIHTI, Centro de Biotecnología Genómica, Instituto Politécnico Nacional, Reynosa 88710, Mexico.
TecNM-Instituto Tecnológico Superior del Sur del Estado de Yucatán, Oxkutzcab 97880, Mexico.
Departamento de Ingeniería Química y Bioquímica, Campus Mérida, Tecnológico Nacional de México, Mérida 97118, Mexico.
Facultad de Enfermería y Nutrición U.L., Universidad Autónoma de Coahuila, Torreón 27298, Mexico.
Instituto Tecnológico de la Zona Maya, Tecnológico Nacional de México, Chetumal 77960, Mexico.
Synthetic Biology and Systems Metabolic Engineering of Aminoglycoside Antibiotics: From Biosynthetic Pathways to Resistance-Evading and Low-Toxicity Design.
Shengxin Zhang、Keqin Tan、Qin Zhang、Yuzhe Zhao、Ziyang Cheng、Xinggang Yang、Jingsi Dong、Jiaming Liu、Xuelei Ma
作者机构
Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Department of Postgraduate Students, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
West China Hospital of Stomatology, Sichuan University, Chengdu, Sichuan, China.
Department of Hematology, Children's Hospital of Soochow University, Suzhou, Jiangsu, China.
Department of Respiratory and Critical Care Medicine, Institute of Respiratory Health, Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, Chengdu, China.
Lung Cancer Center/Lung Cancer Institute, West China Hospital, Sichuan University, Chengdu, Sichuan, China. dongjingsi@wchscu.edu.cn.
Department of Thoracic Surgery, West China Hospital, Sichuan University, Chengdu, Sichuan, China. dongjingsi@wchscu.edu.cn.
Department of Urology, West China Hospital, Sichuan University, Chengdu, China. JM3099@163.com.
Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, Sichuan, China. maxuelei0726@wchscu.cn.
为什么值得关注
编辑短评摘要指出AI利用三级结构解读RNA功能并指导序列生成,替代传统试错流程。其核心逻辑是AI辅助实验方法持续扩展结构数据基础,进而支撑可扩展、可编程的RNA设计。但摘要未报告具体模型、数据集或实验验证结果,所述“赋能”仍属方向性论断,需后续实证研究检验其可扩展性与可编程性的实际效果。