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PACE:贡献者估计的概率评估——一种基于机器学习的DNA混合样本中贡献者数量的评估方法。

PACE: Probabilistic Assessment for Contributor Estimation- A machine learning-based assessment of the number of contributors in DNA mixtures.

作者信息

Marciano Michael A, Adelman Jonathan D

机构信息

Forensic & National Security Sciences Institute, College of Arts and Sciences, Syracuse University, 107 College Place 1-014 Center for Science and Technology, Syracuse, NY, 13244, USA.

Forensic & National Security Sciences Institute, College of Arts and Sciences, Syracuse University, 107 College Place 1-014 Center for Science and Technology, Syracuse, NY, 13244, USA.

出版信息

Forensic Sci Int Genet. 2017 Mar;27:82-91. doi: 10.1016/j.fsigen.2016.11.006. Epub 2016 Nov 24.

Abstract

The deconvolution of DNA mixtures remains one of the most critical challenges in the field of forensic DNA analysis. In addition, of all the data features required to perform such deconvolution, the number of contributors in the sample is widely considered the most important, and, if incorrectly chosen, the most likely to negatively influence the mixture interpretation of a DNA profile. Unfortunately, most current approaches to mixture deconvolution require the assumption that the number of contributors is known by the analyst, an assumption that can prove to be especially faulty when faced with increasingly complex mixtures of 3 or more contributors. In this study, we propose a probabilistic approach for estimating the number of contributors in a DNA mixture that leverages the strengths of machine learning. To assess this approach, we compare classification performances of six machine learning algorithms and evaluate the model from the top-performing algorithm against the current state of the art in the field of contributor number classification. Overall results show over 98% accuracy in identifying the number of contributors in a DNA mixture of up to 4 contributors. Comparative results showed 3-person mixtures had a classification accuracy improvement of over 6% compared to the current best-in-field methodology, and that 4-person mixtures had a classification accuracy improvement of over 20%. The Probabilistic Assessment for Contributor Estimation (PACE) also accomplishes classification of mixtures of up to 4 contributors in less than 1s using a standard laptop or desktop computer. Considering the high classification accuracy rates, as well as the significant time commitment required by the current state of the art model versus seconds required by a machine learning-derived model, the approach described herein provides a promising means of estimating the number of contributors and, subsequently, will lead to improved DNA mixture interpretation.

摘要

DNA混合物的解卷积仍然是法医DNA分析领域最关键的挑战之一。此外,在进行这种解卷积所需的所有数据特征中,样本中的贡献者数量被广泛认为是最重要的,而且,如果选择错误,最有可能对DNA图谱的混合物解释产生负面影响。不幸的是,目前大多数混合物解卷积方法都需要假设分析师知道贡献者的数量,而当面对由3个或更多贡献者组成的日益复杂的混合物时,这一假设可能会被证明是特别错误的。在本研究中,我们提出了一种概率方法,用于估计DNA混合物中的贡献者数量,该方法利用了机器学习的优势。为了评估这种方法,我们比较了六种机器学习算法的分类性能,并将性能最佳的算法所构建的模型与贡献者数量分类领域的当前技术水平进行了评估。总体结果表明,在识别多达4个贡献者的DNA混合物中的贡献者数量时,准确率超过98%。比较结果显示,与当前领域最佳方法相比,三人混合物的分类准确率提高了6%以上,四人混合物的分类准确率提高了20%以上。贡献者估计概率评估(PACE)使用标准笔记本电脑或台式电脑,在不到1秒的时间内就能完成对多达4个贡献者混合物的分类。考虑到高分类准确率,以及当前技术水平模型所需的大量时间投入与机器学习衍生模型所需的几秒时间对比,本文所述方法为估计贡献者数量提供了一种有前景的手段,随后将有助于改进DNA混合物的解释。

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