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EuroForMix: An open source software based on a continuous model to evaluate STR DNA profiles from a mixture of contributors with artefacts

机译:EuroFormix:一种基于连续模型的开源软件,用于评估神器贡献者混合物中的sTR DNa概况

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摘要

We have released a software named EuroForMix to analyze STR DNA profiles in a user-friendly graphical user interface. The software implements a model to explain the allelic peak height on a continuous scale in order to carry out weight-of-evidence calculations for profiles which could be from a mixture of contributors. Through a properly parameterized model we are able to do inference on mixture proportions, the peak height properties, stutter proportion and degradation. In addition, EuroForMix includes models for allele drop-out, allele drop-in and sub-population structure. EuroForMix supports two inference approaches for likelihood ratio calculations. The first approach uses maximum likelihood estimation of the unknown parameters. The second approach is Bayesian based which requires prior distributions to be specified for the parameters involved. The user may specify any number of known and unknown contributors in the model, however we find that there is a practical computing time limit which restricts the model to a maximum of four unknown contributors.EuroForMix is the first freely open source, continuous model (accommodating peak height, stutter, drop-in, drop-out, population substructure and degradation), to be reported in the literature. It therefore serves an important purpose to act as an unrestricted platform to compare different solutions that are available. The implementation of the continuous model used in the software showed close to identical results to the R-package DNAmixtures, which requires a HUGIN Expert license to be used. An additional feature in EuroForMix is the ability for the user to adapt the Bayesian inference framework by incorporating their own prior information.
机译:我们已经发布了一个名为EuroForMix的软件,可以在用户友好的图形用户界面中分析STR DNA谱。该软件实现了一个模型,以连续尺度解释等位基因峰高,以便为可能来自贡献者混合的图谱进行证据权重计算。通过适当参数化的模型,我们可以推断出混合物的比例,峰高特性,口吃比例和降解。此外,EuroForMix还包括等位基因缺失,等位基因缺失和亚人群结构的模型。 EuroForMix支持两种推理方法进行似然比计算。第一种方法使用未知参数的最大似然估计。第二种方法是基于贝叶斯方法,它需要为所涉及的参数指定先验分布。用户可以在模型中指定任意数量的已知和未知贡献者,但是我们发现存在实际的计算时间限制,该模型将模型限制为最多四个未知贡献者。EuroForMix是第一个自由开源的连续模型(可容纳峰高,结巴,下降,下降,种群子结构和退化),将在文献中进行报道。因此,它作为一个不受限制的平台来比较可用的不同解决方案具有重要的目的。该软件中使用的连续模型的实现显示出与R-package DNAmixtures几乎相同的结果,这需要使用HUGIN Expert许可证。 EuroForMix的另一个功能是用户可以通过合并自己的先验信息来适应贝叶斯推理框架。

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