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两种 PG 系统的故事:美国两种使用最广泛的连续概率基因分型系统的比较。

A tale of two PG systems: A comparison of the two most widely used continuous probabilistic genotyping systems in the United States.

机构信息

Virginia Department of Forensic Science, Richmond, Virginia, USA.

出版信息

J Forensic Sci. 2024 Sep;69(5):1840-1860. doi: 10.1111/1556-4029.15571. Epub 2024 Jun 20.

Abstract

The development of probabilistic genotyping (PG) systems to quantitatively analyze DNA mixture samples has been transformative in forensic science. TrueAllele® Casework (TA) and STRmix™ (STRmix) are the two most widely used PG systems in the United States. The two systems were challenged with 48 two-, three-, and four-person mock casework samples, for a total of 152 likelihood ratio (LR) comparisons. TA and STRmix converged on the same result (supportive, non-supportive, or inconclusive) for 91% of contributor-specific comparisons. Where moderate or substantial differences in log(LR) values were observed, 9% affected the conclusion of the reference association to the mixture. The PG systems exhibited high correlations for estimated contributor-specific template quantities (92%) and log(LR)s produced (>88%). When the log(LR)s for only low-template contributors (<100 pg) were compared, the R value dropped to ~68% and the difference became statistically significant. Of the 14 contributor comparisons where the conclusion differed, two were contradictory (supportive vs. non-supportive) and 12 were either inconclusive versus non-supportive or inconclusive versus supportive. The differing results were likely due to dissimilarities in the mixture input file as STRmix uses a lab-defined analytical threshold (AT) and TA models to 10 RFUs for each electropherogram. When 7 of the 14 mixtures were reanalyzed by STRmix using a 10 RFU AT, the log(LR)s for the low-template contributors became more similar to TAs. This study shows that while both systems may produce accurate and calibrated LRs, their results can deviate, especially for low-template, degraded contributors, and the deviation is generally predictable.

摘要

概率基因分型 (PG) 系统的发展极大地改变了法医学,使其能够定量分析 DNA 混合样本。TrueAllele® Casework (TA) 和 STRmix™ (STRmix) 是美国使用最广泛的两种 PG 系统。这两种系统对 48 个两、三、四人模拟案例样本进行了测试,共进行了 152 次似然比 (LR) 比较。TA 和 STRmix 对约 91%的特定供体比较结果一致(支持、不支持或不确定)。在观察到对数 LR 值存在中度或显著差异的情况下,9%影响了参考关联到混合物的结论。PG 系统对估计的特定供体模板数量(92%)和产生的对数 LR(>88%)具有高度相关性。当仅比较低模板供体(<100 pg)的对数 LR 时,R 值降至68%,差异具有统计学意义。在结论不同的 14 个供体比较中,有两个是矛盾的(支持与不支持),12 个是不确定与不支持或不确定与支持。不同的结果可能是由于混合物输入文件的差异造成的,因为 STRmix 使用实验室定义的分析阈值 (AT) 和 TA 模型,对每个电泳图谱建模为 10 RFU。当 STRmix 使用 10 RFU AT 对其中 7 个混合物进行重新分析时,低模板供体的对数 LR 变得与 TA 更相似。本研究表明,虽然这两种系统都可以产生准确和校准的 LR,但它们的结果可能存在偏差,特别是对于低模板、降解供体,并且偏差通常是可预测的。

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