树序列作为群体遗传推断的通用工具。

IF 11 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY
Logan S Whitehouse, Dylan D Ray, Daniel R Schrider
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引用次数: 0

摘要

随着群体遗传学数据规模的扩大,人们开发出了新的方法,以树状序列等高效方式存储遗传信息。这些数据结构具有计算和存储效率高的特点,但无法与许多群体遗传推断方法(如使用卷积神经网络(CNN)进行群体遗传排列)中使用的现有数据结构互换。为了更好地利用这些新的数据结构,我们提出并实现了图卷积网络(GCN),直接从树序列拓扑和节点数据中学习,这样就可以使用神经网络应用,而无需将树序列转换为群体遗传排列格式的中间步骤。然后,我们将我们的方法与标准 CNN 方法在一组先前定义的基准任务上进行了比较,这些基准任务包括重组率估计、正向选择检测、引入检测和人口模型参数推断。我们的研究表明,树序列可以直接从 GCN 方法中学习,并能在这些常见的种群遗传学推断任务中表现出色,其精确度与基于 CNN 的方法基本相当,甚至超过 CNN 方法。随着树序列在群体遗传学研究中的应用越来越广泛,我们预计这项工作将得到发展和优化,为今后的群体遗传学推断奠定基础。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Tree Sequences as a General-Purpose Tool for Population Genetic Inference.

As population genetic data increase in size, new methods have been developed to store genetic information in efficient ways, such as tree sequences. These data structures are computationally and storage efficient but are not interchangeable with existing data structures used for many population genetic inference methodologies such as the use of convolutional neural networks applied to population genetic alignments. To better utilize these new data structures, we propose and implement a graph convolutional network to directly learn from tree sequence topology and node data, allowing for the use of neural network applications without an intermediate step of converting tree sequences to population genetic alignment format. We then compare our approach to standard convolutional neural network approaches on a set of previously defined benchmarking tasks including recombination rate estimation, positive selection detection, introgression detection, and demographic model parameter inference. We show that tree sequences can be directly learned from using a graph convolutional network approach and can be used to perform well on these common population genetic inference tasks with accuracies roughly matching or even exceeding that of a convolutional neural network-based method. As tree sequences become more widely used in population genetic research, we foresee developments and optimizations of this work to provide a foundation for population genetic inference moving forward.

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来源期刊
Molecular biology and evolution
Molecular biology and evolution 生物-进化生物学
CiteScore
19.70
自引率
3.70%
发文量
257
审稿时长
1 months
期刊介绍: Molecular Biology and Evolution Journal Overview: Publishes research at the interface of molecular (including genomics) and evolutionary biology Considers manuscripts containing patterns, processes, and predictions at all levels of organization: population, taxonomic, functional, and phenotypic Interested in fundamental discoveries, new and improved methods, resources, technologies, and theories advancing evolutionary research Publishes balanced reviews of recent developments in genome evolution and forward-looking perspectives suggesting future directions in molecular evolution applications.
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