一致性
STR复用系统
微卫星
大规模并行测序
STR分析
生物
标准化
法医学
计算生物学
人口
序列(生物学)
遗传学
计算机科学
DNA测序
医学
基因
等位基因
环境卫生
操作系统
作者
Antonio Alonso,Pedro A. Barrio,Petra Müller,Steffi Köcher,Burkhard Berger,Pablo Martı́n,Martin Bodner,Sascha Willuweit,Walther Parson,Lutz Roewer,Bruce Budowle
标识
DOI:10.1002/elps.201800030
摘要
The current state of validation and implementation strategies of massively parallel sequencing (MPS) technology for the analysis of STR markers for forensic genetics use is described, covering the topics of the current catalog of commercial MPS-STR panels, leading MPS-platforms, and MPS-STR data analysis tools. In addition, the developmental and internal validation studies carried out to date to evaluate reliability, sensitivity, mixture analysis, concordance, and the ability to analyze challenged samples are summarized. The results of various MPS-STR population studies that showed a large number of new STR sequence variants that increase the power of discrimination in several forensically relevant loci are also presented. Finally, various initiatives developed by several international projects and standardization (or guidelines) groups to facilitate application of MPS technology for STR marker analyses are discussed in regard to promoting a standard STR sequence nomenclature, performing population studies to detect sequence variants, and developing a universal system to translate sequence variants into a simple STR nomenclature (numbers and letters) compatible with national STR databases.
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