Institute of Legal Medicine, Medical University of Innsbruck, Innsbruck, Austria.
Institute of Legal Medicine, Medical University of Innsbruck, Innsbruck, Austria; Forensic Genetics Unit, Institute of Forensic Sciences, University of Santiago de Compostela, Spain.
Forensic Sci Int Genet. 2022 Nov;61:102779. doi: 10.1016/j.fsigen.2022.102779. Epub 2022 Sep 24.
Responding to the growing scientific and practical interest in forensic DNA phenotyping, the VISible Attributes through GEnomics (VISAGE) Consortium was founded in 2017 with the main goal of developing and validating new and reliable molecular and statistical tools to predict appearance, ancestry and age from DNA. Here, we describe the development and inter-laboratory evaluation and validation of the VISAGE Enhanced Tool for Appearance and Ancestry inference from DNA. The VISAGE Enhanced Tool for Appearance and Ancestry is the first forensic-driven genetic laboratory tool that comprises well-established markers for eye, hair and skin color with more recently discovered DNA markers for eyebrow color, freckling, hair shape and male pattern baldness and bio-geographic ancestry informative DNA markers. The bio-geographic ancestry markers include autosomal SNPs (bi- and tri-allelic SNPs), X-SNPs, Y-SNPs and autosomal Microhaplotypes. In total, primers targeting 524 SNPs (representing a 97.6% assay conversion rate) were successfully designed using AmpliSeq into a single primer pool (i.e., one multiplex assay) and sequenced with the Ion S5. In a collaborative framework, five VISAGE laboratories tested the VISAGE Enhanced Tool for Appearance and Ancestry on reproducibility, sensitivity, genotyping concordance, mixtures, species specificity and performance in relevant forensic conditions, including inhibitor-spiked, mock casework and artificially degraded samples. Based on our results, the VISAGE Enhanced Tool for Appearance and Ancestry is a robust, reproducible, and - for the large SNP number - fairly sensitive MPS assay with high concordance rates. With the VISAGE Enhanced Tool for Appearance and Ancestry introduced here, the VISAGE Consortium delivers the first single DNA-test for combined appearance prediction based on seven traits together with bio-geographic ancestry inference based on major continental regions for separated bi-parental and paternal ancestry, which represents the most comprehensive validated laboratory tool currently available for Forensic DNA Phenotyping.
为了应对法医学 DNA 表型分析日益增长的科学和实践兴趣，VISible Attributes through GEnomics (VISAGE) 联盟于 2017 年成立，其主要目标是开发和验证新的、可靠的分子和统计工具，以从 DNA 预测外貌、祖籍和年龄。在这里，我们描述了 VISAGE 增强工具的开发和实验室间评估与验证，用于从 DNA 推断外貌和祖籍。VISAGE 增强工具是第一个法医驱动的遗传实验室工具，包含了用于眼睛、头发和肤色的成熟标记，以及最近发现的用于眉毛颜色、雀斑、头发形状和男性型秃发的 DNA 标记，以及生物地理祖籍信息性 DNA 标记。生物地理祖籍标记包括常染色体 SNPs（双等位和三等位 SNPs）、X-SNPs、Y-SNPs 和常染色体微单倍型。总共，使用 AmpliSeq 成功设计了靶向 524 个 SNPs（代表 97.6%的检测转换率）的引物，将其放入单个引物池（即一个多重检测）中，并使用 Ion S5 进行测序。在协作框架内，五个 VISAGE 实验室测试了 VISAGE 增强工具在可重复性、灵敏度、基因分型一致性、混合物、种属特异性以及相关法医条件下的性能，包括抑制剂污染、模拟案例和人为降解样本。根据我们的结果，VISAGE 增强工具是一种强大、可重复的且具有高度一致性的 MPS 检测方法，对于大的 SNP 数量，其灵敏度相当高。有了这里介绍的 VISAGE 增强工具，VISAGE 联盟提供了第一个基于七个特征的单一 DNA 测试，用于联合外貌预测，以及基于主要大陆地区的生物地理祖籍推断，用于分离的双亲和父系祖籍，这代表了目前法医学 DNA 表型分析中最全面的验证实验室工具。
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