人口遗传学中的掺杂几何:维度之福。

IF 3.3 3区 生物学 Q2 GENETICS & HEREDITY Genetics Pub Date : 2024-10-07 DOI:10.1093/genetics/iyae134
José-Angel Oteo, Gonzalo Oteo-García
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引用次数: 0

摘要

我们介绍了基于几何学的 f 统计框架的解释,该框架常用于群体遗传学,通过基因组数据估计系统发育关系。重点是确定受混杂后漂移影响的种群混杂事件中的混杂系数。解释利用了数据集的高维度,并将问题作为降维问题进行分析。我们证明,可以将 f 统计技术视为基因组数据从相空间到子空间的隐式转换,在子空间中,映射的数据结构与祖先的混杂配置更为相似。事实上,双向混合系数就是在这个子空间中隐含进行的。此外,我们还建议在该子空间中评估掺杂检验,因为与传统检验的比较可对掺杂模型进行重要评估。总体几何框架以不同的原理为出发点,提供了比 f 形式主义更通用的公式。明确涉及的是双向和三向混合物。混合物的比例由合适的线性拟合提供,可以是二维的,也可以是三维的,易于可视化。此外,还讨论了在引入和基因流方面遇到的困难。研究的进展和发现通过数值模拟和实际案例进行了说明。
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The geometry of admixture in population genetics: the blessing of dimensionality.

We present a geometry-based interpretation of the f-statistics framework, commonly used in population genetics to estimate phylogenetic relationships from genomic data. The focus is on the determination of the mixing coefficients in population admixture events subject to post-admixture drift. The interpretation takes advantage of the high dimension of the dataset and analyzes the problem as a dimensional reduction issue. We show that it is possible to think of the f-statistics technique as an implicit transformation of the genomic data from a phase space into a subspace where the mapped data structure is more similar to the ancestral admixture configuration. The 2-way mixing coefficient is, as a matter of fact, carried out implicitly in this subspace. In addition, we propose the admixture test to be evaluated in the subspace because the comparison with the conventional one provides an important assessment of the admixture model. The overarching geometric framework provides slightly more general formulas than the f-formalism by using a different rationale as a starting point. Explicitly addressed are 2- and 3-way admixtures. The mixture proportions are provided by suitable linear fits, in 2 or 3 dimensions, that can be easily visualized. The difficulties encountered with introgression and gene flow are also addressed. The developments and findings are illustrated with numerical simulations and real-world cases.

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来源期刊
Genetics
Genetics GENETICS & HEREDITY-
CiteScore
6.90
自引率
6.10%
发文量
177
审稿时长
1.5 months
期刊介绍: GENETICS is published by the Genetics Society of America, a scholarly society that seeks to deepen our understanding of the living world by advancing our understanding of genetics. Since 1916, GENETICS has published high-quality, original research presenting novel findings bearing on genetics and genomics. The journal publishes empirical studies of organisms ranging from microbes to humans, as well as theoretical work. While it has an illustrious history, GENETICS has changed along with the communities it serves: it is not your mentor''s journal. The editors make decisions quickly – in around 30 days – without sacrificing the excellence and scholarship for which the journal has long been known. GENETICS is a peer reviewed, peer-edited journal, with an international reach and increasing visibility and impact. All editorial decisions are made through collaboration of at least two editors who are practicing scientists. GENETICS is constantly innovating: expanded types of content include Reviews, Commentary (current issues of interest to geneticists), Perspectives (historical), Primers (to introduce primary literature into the classroom), Toolbox Reviews, plus YeastBook, FlyBook, and WormBook (coming spring 2016). For particularly time-sensitive results, we publish Communications. As part of our mission to serve our communities, we''ve published thematic collections, including Genomic Selection, Multiparental Populations, Mouse Collaborative Cross, and the Genetics of Sex.
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