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Developing criteria and data to determine best options for expanding the core CODIS loci

机译：制定标准和数据，以确定扩展核心CODIS基因座的最佳选择

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Background Recently, the Combined DNA Index System (CODIS) Core Loci Working Group established by the US Federal Bureau of Investigation (FBI) reviewed and recommended changes to the CODIS core loci. The Working Group identified 20 short tandem repeat (STR) loci (composed of the original CODIS core set loci (minus TPOX), four European recommended loci, PentaE, and DYS391) plus the Amelogenin marker as the new core set. Before selecting and finalizing the core loci, some evaluations are needed to provide guidance for the best options of core selection. Method The performance of current and newly proposed CODIS core loci sets were evaluated with simplified analyses for adventitious hit rates in reasonably large datasets under single-source profile comparisons, mixture comparisons and kinship searches, and for international data sharing. Informativeness (for example, match probability, average kinship index (AKI)) and mutation rates of each locus were some of the criteria to consider for loci selection. However, the primary factor was performance with challenged forensic samples. Results The current battery of loci provided in already validated commercial kits meet the needs for single-source profile comparisons and international data sharing, even with relatively large databases. However, the 13 CODIS core loci are not sufficiently powerful for kinship analyses and searching potential contributors of mixtures in larger databases; 19 or more autosomal STR loci perform better. Y-chromosome STR (Y-STR) loci are very useful to trace paternal lineage, deconvolve female and male mixtures, and resolve inconsistencies with Amelogenin typing. The DYS391 locus is of little theoretical or practical use. Combining five or six Y-chromosome STR loci with existing autosomal STR loci can produce better performance than the same number of autosomal loci for kinship analysis and still yield a sufficiently low match probability for single-source profile comparisons. Conclusion A more comprehensive study should be performed to provide the necessary information to decision makers and stakeholders about the construction of a new set of core loci for CODIS. Finally, selection of loci should be driven by the concept that the needs of casework should be supported by the processes of CODIS (or for that matter any forensic DNA database).
机译：背景技术最近，由美国联邦调查局（FBI）建立的联合DNA索引系统（CODIS）核心基因座工作组审查并建议对CODIS核心基因座进行更改。工作组确定了20个短串联重复（STR）基因座（由原始CODIS核心基因座基因组（减去TPOX），四个欧洲推荐基因座，PentaE和DYS391组成）加上Amelogenin标记作为新的核心基因组。在选择和确定核心位点之前，需要进行一些评估以为核心选择的最佳选择提供指导。方法通过简化分析，评估了当前和新提出的CODIS核心基因座集的性能，这些分析用于在单一来源配置文件比较，混合物比较和亲属关系搜索下的合理大数据集中的不定命中率，以及国际数据共享。每个基因座的信息性（例如，匹配概率，平均亲属指数（AKI））和突变率是选择基因座时要考虑的一些标准。但是，主要因素是法医样品的性能。结果即使是相对大型的数据库，在经过验证的商业工具包中提供的当前基因座组合也可以满足单源配置文件比较和国际数据共享的需求。但是，这13个CODIS核心基因座不足以进行亲缘关系分析并在较大的数据库中搜索混合物的潜在贡献者。 19个或更多的常染色体STR基因座表现更好。 Y染色体STR（Y-STR）位点对于追踪父系，使女性和男性混合物反卷积以及解决与Amelogenin分型不一致的问题非常有用。 DYS391基因座几乎没有理论或实际用途。将五个或六个Y染色体STR基因座与现有的常染色体STR基因座相结合，可以产生比相同数量的常染色体基因座用于亲缘关系分析的性能更好的结果，并且对于单源图谱比较仍然产生足够低的匹配概率。结论应该进行更全面的研究，以为决策者和利益相关者提供有关构建CODIS的新核心基因座的必要信息。最后，基因座的选择应由这样的概念驱动，即案例工作的需求应由CODIS的流程（或与此相关的任何法医DNA数据库）支持。

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