Forensic investigation for the identification of offenders, recognition of human remains, and verification of family relationships requires the analysis of particular types of highly informative DNA markers, which have high discriminatory power and are efficient for typing degraded samples. These markers, called STRs (Short Tandem Repeats), can be amplified by multiplex-PCR (Polymerase Chain Reaction) allowing attainment of a unique profile through which it is possible to distinguish one individual from another with a high statistical significance. The rapid and progressive evolution of analytical techniques and the advent of Next-Generation Sequencing (NGS) have completely revolutionized the DNA sequencing approach. This technology, widely used today in the diagnostic field, has the advantage of being able to process several samples in parallel, producing a huge volume of data in a short time. At this time, although default parameters of interpretation software are available, there is no general agreement on the interpretation rules of forensic data produced via NGS technology. Here we report a pilot study aimed for a comparison between NGS (Precision ID GlobalFiler™ NGS STR Panel v2, Thermo Fisher Scientific, Waltham, MA, USA) and traditional methods in their ability to identify major and minor contributors in DNA mixtures from saliva and urine samples. A quantity of six mixed samples were prepared for both saliva and urine samples from donors. A total of 12 mixtures were obtained in the ratios of 1:2; 1:4; 1:6; 1:8; 1:10; and 1:20 between minor and major contributors. Although the number of analyzed mixtures is limited, our results confirm that NGS technology offers a huge range of additional information on samples, but cannot ensure a higher sensitivity in respect to traditional methods. Finally, the Precision ID GlobalFiler™ NGS STR Panel v2 is a powerful method for kinship analyses and typing reference samples, but its use in biological evidence should be carefully considered on the basis of the characteristics of the evidence.

中文翻译：

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解释混合物概况：Precision ID GlobalFiler™ NGS STR Panel v2 与传统方法之间的比较


用于识别罪犯、识别人类遗骸和验证家庭关系的法医调查需要分析特定类型的信息丰富的 DNA 标记，这些标记具有很高的辨别能力，并且可以有效地对降解样本进行分型。这些标记称为 STR（短串联重复），可以通过多重 PCR（聚合酶链式反应）进行扩增，从而获得独特的图谱，通过该图谱可以将一个个体与另一个个体区分开来，并具有较高的统计显着性。分析技术的快速进步和下一代测序 (NGS) 的出现彻底改变了 DNA 测序方法。这项技术如今广泛应用于诊断领域，其优点是能够并行处理多个样本，在短时间内产生大量数据。目前，虽然判读软件的默认参数是可用的，但对于NGS技术产生的法医数据的判读规则尚未达成普遍共识。在此，我们报告了一项试点研究，旨在比较 NGS（Precision ID GlobalFiler™ NGS STR Panel v2，Thermo Fisher Scientific，沃尔瑟姆，马萨诸塞州，美国）和传统方法识别唾液和 DNA 混合物中主要和次要贡献者的能力。尿液样本。为来自捐赠者的唾液和尿液样本制备了六个混合样本。共得到12种比例为1:2的混合物； 1：4； 1：6； 1：8； 1:10；次要贡献者和主要贡献者之间的比例为 1:20。 尽管分析的混合物数量有限，但我们的结果证实，NGS 技术提供了大量有关样品的附加信息，但无法确保比传统方法具有更高的灵敏度。最后，Precision ID GlobalFiler™ NGS STR Panel v2 是一种用于亲属关系分析和参考样本分型的强大方法，但应根据证据的特征仔细考虑其在生物证据中的使用。