法医学二代测序标准化进展与展望

二代测序技术可检测多种法医遗传标记获取海量序列信息,满足法医学实践中精准个体识别、复杂亲缘关系鉴定、特征刻画等应用需求。国内外已开展大量二代测序法医学应用科研工作,但由于缺乏行业标准,二代测序在我国公安实战中并未得到有效应用。目前,法医学二代测序的标准制定面临检测靶标特殊、测序技术流程和结果分析不统一等挑战。本文从核酸标准参考物、测序技术要求、序列多态STR等位基因命名规则等方面,梳理国外法医学二代测序标准化工作进展,并总结国内二代测序检测行业标准现状,希冀为我国法医学二代测序的标准建设提供思路和参考。

Progress and prospects of standardization of second-generation sequencing in forensic science

Second-generation sequencing technology is capable of detecting a variety of forensic genetic markers to yield massive sequence information,which meets the application needs of precise individual identification,complex kinship analysis,forensic DNA phenotyping and other applications in forensic science.A large number of second-generation sequencing forensic application have been carried out at home and abroad,however,due to the lack of industry standards,the application in practice of public security is still limited.At present,the formulation of second-generation sequencing faces challenges such as polymorphic DNA markers,controversial performance and various data analysis.In this article,the authors attempt to share the international updates concerning standardization of second-generation sequencing in forensic science in terms of standard reference material,validation issues and nomenclature for sequence-based forensic STR alleles.and summerize,the status of domestic second-generation sequencing standardization.in the hope of providing a reference for related standards research and drafting.