DNA混合物的解释、比较和统计分析的实验室间差异。

R Austin Hicklin, Nicole Richetelli, Robert A Bever, Jonathan M Davoren
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摘要

DNAmix2021是一项大规模的实验室间研究,旨在评估DNA混合物的解释、比较和统计分析的差异。分析基于来自52个实验室的106名参与者的765份回复。八种不同的DNA混合物被创造出来,每一种都作为贡献者包(感兴趣的人(POI)在混合物中)或作为非贡献者包(POI不在混合物中)提供给参与者。贡献包的准确性与POI贡献的DNA百分比显著相关:与POI贡献更多DNA的包相比,POI贡献的DNA比例低于8%(≤25 pg)的包具有更高的错误排除率(与基本事实相反)和不确定的反应。实验室辨别低水平贡献者的能力在很大程度上是其操作程序的功能:社区可能希望考虑是否排除非常低水平的贡献者可以或应该被认为是不正确的。大多数假夹杂是在一个非贡献者包中报告的,该包与一个POI是混合物的一个贡献者的兄弟姐妹,具有高等位基因共享。大多数错误的排除和错误的纳入与对贡献者数量的错误估计有关。少数错误的包含也可以解释为没有支持统计和/或没有参考资料的包含组合。唯一的似然比表明非常强烈的支持,与基础事实相反,是在贡献包的DNA贡献的低比例的POI。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Inter-laboratory variation in interpretations, comparisons, and statistical analyses of DNA mixtures.

DNAmix2021 was a large-scale inter-laboratory study conducted to assess variation in interpretations, comparisons, and statistical analyses of DNA mixtures. Analyses were based on 765 responses by 106 participants from 52 labs. Eight distinct DNA mixtures were created, each of which was provided to participants as a contributor packet (the person of interest (POI) was in the mixture), or as a non-contributor packet (the POI was NOT in the mixture). Accuracy on contributor packets was notably associated with the percent of DNA contributed by the POI: packets in which the POI contributed less than 8% of the DNA (≤25 pg) had much higher rates of false exclusions (contrary to ground truth) and indeterminate responses, compared to packets in which the POI contributed more DNA. A lab's ability to discern a low-level contributor is largely a function of its operating procedures: the community may wish to consider whether the exclusion of very low-level contributors can or should be considered incorrect. Most false inclusions were reported on one non-contributor packet that had high allele sharing with a POI that was a sibling of a contributor to the mixture. Most false exclusions and false inclusions were associated with incorrect estimates of the number of contributors. The few false inclusions may also be explained as a combination of inclusions without supporting statistics and/or not conditioning on reference profiles. The only likelihood ratios indicating very strong support that were contrary to ground truth were on contributor packets with a low proportion of the DNA contributed by the POI.

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