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一种基于DNA甲基化标记的用于准确法医年龄估计的新型强大人工智能/机器学习模型。

A new robust AI/ML based model for accurate forensic age estimation using DNA methylation markers.

作者信息

Mathew Jinsu Ann, Paul Geetha, Jacob Joe, Kumar Janesh, Dubey Neelima, Philip Ninan Sajeeth

机构信息

Department of Physics, Newman College (Affiliated to Mahatma Gandhi University), Thodupuzha, Kerala, India.

Artificial Intelligence Research and Intelligent Systems (airis4D), Thelliyoor, Kerala, India.

出版信息

Forensic Sci Med Pathol. 2025 Mar 14. doi: 10.1007/s12024-025-00985-x.

Abstract

CpG sites are regions of DNA where a cytosine nucleotide is followed by a guanine nucleotide in the 5' → 3' direction. Epigenetic markers based on methylation values at CpG sites are valuable for accurate age prediction and have become essential in forensic science, supporting criminal investigations and human identification. The present study identified 12 CpG sites from a collection of 476,366 CpG sites based on the following criteria: (a) CpG sites were retained if the Pearson correlation coefficient between the methylation values and the chronological age of the individual is greater than 0.85, and (b) if the mutual correlation coefficient between a pair of selected CpG sites is greater than 0.15, only one of them is retained. The identified CpG sites are associated with genes FHL2, ELOVL2, TRIM59, PCDHB1, KLF14, C1orf132, ACSS3, and CCDC102B. To ensure that the predictive accuracy is intrinsic to the selected CpG sites and not model dependent, the identified CpG sites were passed to three different Neural network models. All models achieved comparable accuracy across diverse populations, genders, and health conditions. The model's accuracy and reliability were validated through age predictions on independent datasets. By utilizing a minimal set of CpG sites, this approach offers a robust and efficient solution for forensic age estimation, significantly enhancing the precision and reliability of forensic investigations.

摘要

CpG位点是DNA区域,其中胞嘧啶核苷酸在5'→3'方向上后接鸟嘌呤核苷酸。基于CpG位点甲基化值的表观遗传标记对于准确的年龄预测很有价值,并且在法医学中已变得至关重要,为刑事调查和身份鉴定提供支持。本研究基于以下标准从476,366个CpG位点的集合中鉴定出12个CpG位点:(a) 如果甲基化值与个体的实际年龄之间的皮尔逊相关系数大于0.85,则保留该CpG位点;(b) 如果一对选定的CpG位点之间的互相关系数大于0.15,则仅保留其中一个。鉴定出的CpG位点与FHL2、ELOVL2、TRIM59、PCDHB1、KLF14、C1orf132、ACSS3和CCDC102B基因相关。为确保预测准确性是所选CpG位点所固有的而非模型依赖的,将鉴定出的CpG位点传递给三种不同的神经网络模型。所有模型在不同人群、性别和健康状况下均达到了可比的准确性。通过对独立数据集进行年龄预测,验证了模型的准确性和可靠性。通过使用最少的CpG位点集,该方法为法医年龄估计提供了一种强大而有效的解决方案,显著提高了法医调查的精度和可靠性。

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