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系统评估 STRmix™ 在降解 DNA 谱数据上的性能。

Systematic evaluation of STRmix™ performance on degraded DNA profile data.

机构信息

California Department of Justice Bureau of Forensic Services Jan Bashinski DNA Laboratory, 1001 W Cutting Boulevard, Richmond, CA, 94804, United States.

California Department of Justice Bureau of Forensic Services Jan Bashinski DNA Laboratory, 1001 W Cutting Boulevard, Richmond, CA, 94804, United States.

出版信息

Forensic Sci Int Genet. 2020 Jan;44:102174. doi: 10.1016/j.fsigen.2019.102174. Epub 2019 Oct 15.

Abstract

This study examined the DNA degradation modeling capacity of STRmix™, a widely implemented DNA interpretation software program. As a part of the CAL DOJ STRmix™ v2.4 validation, a large volume of STR profile data was generated from intact template DNA exposed to DNase I for a series of increasing time intervals. The resulting degraded profile data was analyzed with STRmix™ v2.4, and the efficacy of the analysis was assessed, both in terms of how the degradation modeling parameter values from the STRmix™ analysis compared to ground truth values, and how the weight-of-evidence statistics calculated for degraded profiles compared to those calculated for corresponding intact profiles. An additional set of differentially degraded mixture data was generated in silico to further challenge the STRmix™ degradation model, as well as to determine the extent to which end-user adjustment of the model's application can assist in resolving analysis problems that arise when high levels of degradation are observed in a profile. This work demonstrates that the degradation model in STRmix™ is capable of addressing a wide range of degraded STR profile data. The assessment expands the range of samples that have been rigorously examined using probabilistic genotyping approaches, as called for by forensic advisory bodies such as the United States President's Council of Advisors on Science and Technology.

摘要

本研究考察了 STRmix™ 的 DNA 降解建模能力,STRmix™ 是一种广泛应用的 DNA 解释软件程序。作为加利福尼亚州司法部 STRmix™ v2.4 验证的一部分,从暴露于 DNA 酶 I 的完整模板 DNA 中生成了大量 STR 谱数据,这些数据经历了一系列递增的时间间隔。使用 STRmix™ v2.4 对生成的降解谱数据进行分析,并评估分析的效果,包括 STRmix™ 分析得出的降解建模参数值与真实值的比较,以及为降解谱计算的证据权重统计数据与为相应完整谱计算的统计数据的比较。还通过计算机生成了另一组具有不同降解程度的混合数据,以进一步挑战 STRmix™ 的降解模型,并确定用户调整模型应用的程度,以帮助解决在观察到谱高度降解时出现的分析问题。这项工作表明,STRmix™ 中的降解模型能够处理广泛的降解 STR 谱数据。该评估扩展了使用概率基因分型方法进行严格检查的样本范围,这是美国总统科学技术顾问委员会等法医咨询机构所要求的。

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