Amin Md Ruhul, Hasan Mahmudul, Arnab Sandipan Paul, DeGiorgio Michael
bioRxiv. 2023 Mar 29:2023.03.27.527731. doi: 10.1101/2023.03.27.527731.
Inferences of adaptive events are important for learning about traits, such as human digestion of lactose after infancy and the rapid spread of viral variants. Early efforts toward identifying footprints of natural selection from genomic data involved development of summary statistic and likelihood methods. However, such techniques are grounded in simple patterns or theoretical models that limit the complexity of settings they can explore. Due to the renaissance in artificial intelligence, machine learning methods have taken center stage in recent efforts to detect natural selection, with strategies such as convolutional neural networks applied to images of haplotypes. Yet, limitations of such techniques include estimation of large numbers of model parameters under non-convex settings and feature identification without regard to location within an image. An alternative approach is to use tensor decomposition to extract features from multidimensional data while preserving the latent structure of the data, and to feed these features to machine learning models. Here, we adopt this framework and present a novel approach termed , which extracts features from images of haplotypes across sampled individuals using tensor decomposition, and then makes predictions from these features using classical machine learning methods. As a proof of concept, we explore the performance of on simulated neutral and selective sweep scenarios and find that it has high power and accuracy to discriminate sweeps from neutrality, robustness to common technical hurdles, and easy visualization of feature importance. Therefore, is a powerful addition to the toolkit for detecting adaptive processes from genomic data.
对适应性事件的推断对于了解各种性状非常重要,比如婴儿期后人类对乳糖的消化以及病毒变体的快速传播。早期从基因组数据中识别自然选择印记的努力涉及总结统计方法和似然方法的开发。然而,这些技术基于简单模式或理论模型,限制了它们所能探索的设置的复杂性。由于人工智能的复兴,机器学习方法在最近检测自然选择的努力中占据了核心地位,诸如卷积神经网络等策略被应用于单倍型图像。然而,此类技术的局限性包括在非凸设置下估计大量模型参数以及在不考虑图像内位置的情况下进行特征识别。一种替代方法是使用张量分解从多维数据中提取特征,同时保留数据的潜在结构,并将这些特征输入机器学习模型。在此,我们采用这一框架并提出一种名为 的新方法,该方法使用张量分解从跨样本个体的单倍型图像中提取特征,然后使用经典机器学习方法根据这些特征进行预测。作为概念验证,我们在模拟的中性和选择扫荡场景中探索了 的性能,发现它在区分扫荡与中性方面具有高功效和准确性,对常见技术障碍具有鲁棒性,并且特征重要性易于可视化。因此, 是从基因组数据中检测适应性过程的工具包中的一项强大补充。