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使用峰高评估法医 DNA 谱,允许多个供体、等位基因缺失和停顿。

Evaluating forensic DNA profiles using peak heights, allowing for multiple donors, allelic dropout and stutters.

机构信息

Forensic Science Service, Trident Court, Solihull Parkway, Birmingham B37 7YN, UK.

出版信息

Forensic Sci Int Genet. 2013 Sep;7(5):555-63. doi: 10.1016/j.fsigen.2013.05.009. Epub 2013 Jul 11.

Abstract

Increases in the sensitivity of DNA profiling technology now allow profiles to be obtained from smaller and more degraded DNA samples than was previously possible. The resulting profiles can be highly informative, but the subjective elements in the interpretation make it problematic to achieve the valid and efficient evaluation of evidential strength required in criminal cases. The problems arise from stochastic phenomena such as "dropout" (absence of an allele in the profile that is present in the underlying DNA) and experimental artefacts such as "stutter" that can generate peaks of ambiguous allelic status. Currently in the UK, evidential strength evaluation uses an approach in which the complex signals in the DNA profiles are interpreted in a semi-manual fashion by trained experts aided by a set of guidelines, but also relying substantially on professional judgment. We introduce a statistical model to calculate likelihood ratios for evaluating DNA evidence arising from multiple known and unknown contributors that allows for such stochastic phenomena by incorporating peak heights. Efficient use of peak heights allows for more crime scene profiles to be reported to courts than is currently possible. The model parameters are estimated from experimental data incorporating multiple sources of variability in the profiling system. We report and analyse experimental results from the SGMPlus system, run at 28 amplification cycles with no enhancements, currently used in the UK. Our methods are readily adapted to other DNA profiling systems provided that the experimental data for the parameter estimation is available.

摘要

DNA 图谱分析技术的灵敏度不断提高,现在可以从比以前更小、更降解的 DNA 样本中获得图谱。由此产生的图谱可以提供非常丰富的信息,但解释中的主观因素使得在刑事案件中实现有效和高效的证据强度评估变得很成问题。这些问题源于随机现象,如“缺失”(图谱中不存在潜在 DNA 中存在的等位基因)和实验伪像,如“重峰”,它们会产生等位基因状态不确定的峰。目前在英国,证据强度评估采用一种方法,即由受过训练的专家借助一套准则,以半手动方式解释 DNA 图谱中的复杂信号,但也主要依赖于专业判断。我们引入了一种统计模型,用于计算来自多个已知和未知贡献者的 DNA 证据的似然比,该模型通过纳入峰高来考虑这种随机现象。高效利用峰高可以比目前向法庭报告更多的犯罪现场图谱。该模型参数是从包含分析系统中多种来源变异性的实验数据中估计出来的。我们报告并分析了目前在英国使用的 SGMPlus 系统在 28 个扩增循环、无增强条件下的实验结果。只要有用于参数估计的实验数据,我们的方法就可以很容易地应用于其他 DNA 图谱分析系统。

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