在SMC下一般类型ARGs的可能性。

IF 3.3 3区 生物学
Genetics Pub Date : 2025-05-29 DOI:10.1093/genetics/iyaf103
Gertjan Bisschop, Jerome Kelleher, Peter Ralph
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引用次数: 0

摘要

祖先重组图(ARGs)是目前研究的热点。最近在推理方面的进展使得基于arg的方法在各种应用中都是可行的,并且出现了许多使用推断arg作为输入的新方法。在长期存在的ARG推理问题上取得的进展有两个不同的方向。首先,在顺序马尔可夫聚结(SMC)下的arg的贝叶斯推断现在对几十到几百个样本是实用的。其次,近似模型和启发式现在可以扩展到两到三个数量级的样本大小。尽管这些启发式方法在许多指标下都相当准确,但一个显著的缺点是,它们估计的arg不具有在当前公式下的SMC等模型下计算可能性所需的拓扑特性。特别是,启发式推理方法通常不估计重组事件的精确细节,而这些细节目前是计算可能性所必需的。在本文中,我们提出了SMC(通常被认为是沿着基因组的过程)的反向时间公式,并推导了在该模型下一般ARG类可能性的直接定义。我们表明,该公式不需要重组事件的精确细节来估计,并且对多裂的存在是稳健的。我们讨论了这个新公式打开的ARG推断的可能性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Likelihoods for a general class of ARGs under the SMC.

Ancestral recombination graphs (ARGs) are the focus of much ongoing research interest. Recent progress in inference has made ARG-based approaches feasible across of range of applications, and many new methods using inferred ARGs as input have appeared. This progress on the long-standing problem of ARG inference has proceeded in two distinct directions. First, the Bayesian inference of ARGs under the Sequentially Markov Coalescent (SMC), is now practical for tens-to-hundreds of samples. Second, approximate models and heuristics can now scale to sample sizes two to three orders of magnitude larger. Although these heuristic methods are reasonably accurate under many metrics, one significant drawback is that the ARGs they estimate do not have the topological properties required to compute a likelihood under models such as the SMC under present-day formulations. In particular, heuristic inference methods typically do not estimate precise details about recombination events, which are currently required to compute a likelihood. In this paper we present a backwards-time formulation of the SMC (conventionally regarded as an along-the-genome process) and derive a straightforward definition of the likelihood of a general class of ARG under this model. We show that this formulation does not require precise details of recombination events to be estimated, and is robust to the presence of polytomies. We discuss the possibilities for ARG inference that this new formulation opens.

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来源期刊
Genetics
Genetics 生物-遗传学
CiteScore
6.20
自引率
6.10%
发文量
177
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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