Working Commission on "Massively Parallel Sequencing (MPS): Forensic Applications" of the GHEP-ISFG (The Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics), Spain; Biology Service, National Institute of Toxicology and Forensic Sciences, Department of Madrid, Spain.
Working Commission on "Massively Parallel Sequencing (MPS): Forensic Applications" of the GHEP-ISFG (The Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics), Spain; Forensic Science Unit, Forensic Genetics Section, Basque Country Police, Erandio, Bizkaia, Spain.
Forensic Sci Int Genet. 2020 Nov;49:102391. doi: 10.1016/j.fsigen.2020.102391. Epub 2020 Sep 18.
One of the main goals of the Spanish and Portuguese-Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) is to promote and contribute to the development and dissemination of scientific knowledge in the field of forensic genetics. The GHEP-ISFG supports several Working Commissions which develop different scientific activities. One of them, the Working Commission on "Massively Parallel Sequencing (MPS): Forensic Applications", organized its first collaborative exercise on forensic applications of MPS technology in 2019. The aim of this exercise was to assess the concordance between the MPS results and those obtained with conventional technologies (capillary electrophoresis and Sanger sequencing), as well as to compare the results obtained within the different MPS platforms and/or the different kits/panels and analysis software packages (commercial and open-access) available on the market. The seven participating laboratories analyzed some samples of the annual GHEP-ISFG proficiency test (EIADN No. 27 (2019)), using Ion Torrent™ or MiSeq FGx® platforms. Six of them sent autosomal STR sequence data, five laboratories performed MPS analysis of individual identification SNPs, four laboratories reported MPS data of Y-chromosomal STRs, and X-chromosomal STRs, three laboratories performed MPS analysis of ancestry informative SNPs and phenotype informative SNPs, two labs performed MPS analysis of the mitochondrial DNA control region, and only one lab produced MPS data of lineage informative SNPs. Autosomal STR sequencing results were highly concordant to the consensus obtained by capillary electrophoresis in the EIADN No. 27 (2019) exercise. Furthermore, in general, a high level of concordance was observed between the results of the participating laboratories, regardless of the platform used. The main discordances were due to errors during the analysis process or from sequence data obtained with low depth of coverage. In this paper we highlight some issues that still arise, such as standardization of the nomenclature for STRs analyzed by sequencing with MPS, the universal uptake of a nomenclature framework by the analysis software, and well established validation and accreditation of the new MPS platforms for use in routine forensic case-work.
西班牙和葡萄牙语工作组（GHEP-ISFG）的主要目标之一是促进和推动法医遗传学领域的科学知识的发展和传播。GHEP-ISFG 支持多个工作组，这些工作组开展不同的科学活动。其中一个工作组是“大规模平行测序（MPS）：法医应用”工作组，该工作组于 2019 年组织了第一次关于 MPS 技术在法医应用方面的协作实践。该实践的目的是评估 MPS 结果与常规技术（毛细管电泳和 Sanger 测序）获得的结果之间的一致性，以及比较不同 MPS 平台和/或市场上可用的不同试剂盒/面板和分析软件包（商业和开放访问）之间的结果。七个参与实验室使用 Ion Torrent™或 MiSeq FGx®平台分析了年度 GHEP-ISFG 能力验证（EIADN No.27（2019））的一些样本。其中六个实验室发送了常染色体 STR 序列数据，五个实验室进行了个体识别 SNP 的 MPS 分析，四个实验室报告了 Y 染色体 STR 和 X 染色体 STR 的 MPS 数据，三个实验室进行了祖先信息 SNP 和表型信息 SNP 的 MPS 分析，两个实验室进行了线粒体 DNA 控制区的 MPS 分析，只有一个实验室产生了谱系信息 SNP 的 MPS 数据。常染色体 STR 测序结果与 EIADN No.27（2019）实践中毛细管电泳获得的共识高度一致。此外，通常情况下，参与实验室的结果之间存在高度一致性，无论使用的平台如何。主要的不一致是由于分析过程中的错误或由于深度覆盖的序列数据较低而导致的。在本文中，我们强调了一些仍然存在的问题，例如通过 MPS 对 STR 进行测序分析的命名标准化问题，分析软件普遍采用命名框架的问题，以及新的 MPS 平台在常规法医案件工作中的使用的经过良好验证和认证的问题。
