Development and inter-laboratory evaluation of the VISAGE Enhanced Tool for Appearance and Ancestry inference from DNA.
Development and inter-laboratory evaluation of the VISAGE Enhanced Tool for Appearance and Ancestry inference from DNA.
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用于从 DNA 推断外观和祖先的 VISAGE 增强工具的开发和实验室间评估。
DOI：
10.1016/j.fsigen.2022.102779
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发表时间：
2022
期刊：
影响因子：
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通讯作者：
VISAGEConsortium
中科院分区：
文献类型：
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作者：
Xavier,C;delaPuente,M;Mosquera-Miguel,A;Freire-Aradas,A;Kalamara,V;Ralf,A;Revoir,A;Gross,TE;Schneider,PM;Ames,C;Hohoff,C;Phillips,C;Kayser,M;Parson,W;VISAGEConsortium
为了应对法医DNA表型分析日益增长的科学和实践兴趣，通过基因组学（VISAGE）联盟成立于2017年，其主要目标是开发和验证新的可靠的分子和统计工具，以预测DNA的外观，血统和年龄。在这里，我们描述了VISAGE增强工具的开发和实验室间的评估和验证，用于从DNA进行外观和外观推断。VISAGE Enhanced Tool for Appearance and Blastry是第一个法医驱动的遗传实验室工具，包括眼睛，头发和皮肤颜色的成熟标记，最近发现的眉毛颜色，雀斑，头发形状和男性模式秃头的DNA标记以及生物地理祖先信息DNA标记。生物地理祖先标记包括常染色体SNP（双和三等位基因SNP）、X-SNP、Y-SNP和常染色体微单倍型。总之，使用AmpliSeq成功地将靶向524个SNP（代表97.6%的测定转化率）的引物设计成单个引物库（即，一种多重测定）并用Ion S5测序。在一个协作框架中，五个VISAGE实验室测试了VISAGE Enhanced Tool for Appearance and Ancestry的重现性、灵敏度、基因型一致性、混合物、物种特异性和相关法医条件下的性能，包括加标抑制剂、模拟案例和人工降解样本。基于我们的结果，VISAGE增强型外观和外观分析工具是一种稳健、可重复的，并且对于大SNP数量而言相当敏感的MPS分析，具有高一致率。随着VISAGE Enhanced Tool for Appearance and Phenostry的推出，VISAGE Consortium提供了第一个单一的DNA测试，用于基于七个特征的组合外观预测以及基于主要大陆地区的分离双亲和父系血统的生物地理血统推断，这是目前可用于法医DNA表型分析的最全面的验证实验室工具。
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.