Pilot validation of on-field STR typing and human identity testing by MinION nanopore sequencing

Yuan Luo,Jiarong Zhang, Ming Ni, Zhusong Mei, Qiao Ye, Bingqian Guo, Longmei Fang, Dongyun Feng,Lu Wang,Jiangwei Yan,Guangyun Wang

ELECTROPHORESIS(2024)

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摘要
Nanopore sequencing technology has broad application prospects in forensic medicine due to its small size, portability, fast speed, real-time result analysis capabilities, single-molecule sequencing abilities, and simple operation. Here, we demonstrate for the first time that nanopore sequencing platforms can be used to identify individuals in the field. Through scientific and reasonable design, a nanopore MinION MK1B device and other auxiliary devices are integrated into a portable detection box conducive to individual identification at the accident site. Individual identification of 12 samples could be completed within approximately 24 h by jointly detecting 23 short tandem repeat (STR) loci. Through double-blinded experiments, the genotypes of 49 samples were successfully determined, and the accuracy of the STR genotyping was verified by the gold standard. Specifically, the typing success rate for 1150 genotypes was 95.3%, and the accuracy rate was 86.87%. Although this study focused primarily on demonstrating the feasibility of full-process testing, it can be optimistically predicted that further improvements in bioinformatics workflows and nanopore sequencing technology will help enhance the feasibility of Oxford Nanopore Technologies equipment for real-time individual identification at accident sites.
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关键词
forensic genetics,in-field identification,MinION nanopore sequencing,MiSeq FGx sequencing platform,short tandem repeat
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