校正错误的下一代测序在遗传毒性和致癌性方面应用进展  

The application of error-corrected duplex sequencing in genetic toxicity and carcinogenicity

作　　者：崔文腾 郑明岚 周长慧 何伟伟 方雅励 冯天意 杜红丽 常艳 CUI Wen-teng;ZHENG Ming-lan;ZHOU Chang-hui;HE Wei-wei;FANG Ya-li;FENG Tian-yi;DU Hong-li;CHANG Yan(China State Institute of Pharmaceutical Industry,Shanghai 201203,China;Shanghai InnoStar Bio-Tech Co.,Ltd.,Shanghai 200043,China;Yangtze River Delta Center for Drug Evaluation and Inspection,National Medical Products Administration,Shanghai 201203,China;School of Pharmacy,Fudan University,Shanghai 201203,China;Anhui University of Traditional Chinese Medicine,Hefei 230013,China;Nantong Haimen Yangtze Delta Drug Advanced Research Institute,Nantong 226133,China)

机构地区：[1]中国医药工业研究总院,上海201203 [2]上海益诺思生物技术股份有限公司,上海201203 [3]国家药品监督管理局药品审评检查长三角分中心,上海201203 [4]复旦大学药学院,上海201203 [5]安徽中医药大学,合肥230013 [6]南通市海门长三角药物高等研究院,南通226133

出　　处：《中国新药杂志》2025年第4期394-400,共7页Chinese Journal of New Drugs

摘　　要：错误纠正对于下一代测序应用非常重要,因为高度准确的测序读数才能获得更高质量的结果。基于共识测序校正错误的下一代测序(error-corrected duplex sequencing,ecNGS)能够直接量化低频率突变,并为化学致突变性评估提供了巨大潜力,正迅速成为一种有价值、高灵敏度和准确的方法。最近的致突变性和致癌性研究已使用了ecNGS量化化学诱导的突变和与癌症风险相关的突变谱,这在遗传毒性检测和致癌性评估方面发挥了重要作用。ecNGS常见的3种方法在遗传毒性和致癌性检测方面有不同的应用前景。另外,对于与人相关的监管,ecNGS也发挥了重要的作用。本文最后对ecNGS的应用提出了展望,对于进一步发展ecNGS技术并将其终点纳入非临床安全性研究,以补充或为在某些情况下取代当前的测试方法提供参考。Error correction is crucial for next-generation sequencing applications,as highly accurate sequencing readings can yield higher quality results.Error-corrected double sequencing(ecNGS)based on consensus sequencing can directly quantify low-frequency mutations and provides enormous potential for chemical mutagenicity assessment,rapidly becoming a valuable,highly sensitive,and accurate method.Recent studies on mutagenicity and carcinogenicity have used ecNGS to quantify chemically-induced mutations and mutation profiles associated with cancer risk,which plays an important role in genetic toxicity testing and carcinogenicity assessment.The three common methods of ecNGS have different application prospects in genetic toxicity and carcinogenicity detection.In addition,ecNGS has also played an important role in human-related regulation.Finally,prospects for the application of ecNGS were proposed,which could further develop ecNGS technology and include its endpoints in non-clinical safety studies to supplement or provide references for replacing current testing methods in some cases.

关 键 词：校正错误的下一代测序 测序 遗传毒性 致癌性 致突变 

分 类 号：R96[医药卫生—药理学]