Comparing ARG Inference Methods Under Transmission of Reproductive Success: Tree Imbalance Matters.

IF 3.3 2区 生物学 Q2 EVOLUTIONARY BIOLOGY
Fanny Pouyet, Ferdinand Petit, Jérémy Guez, Léo Planche, Evelyne Heyer, Bruno Toupance, Flora Jay, Frédéric Austerlitz
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Abstract

Inferring coalescent trees from genomic data has become a major subject in population genetics, particularly with the recent advances in tree sequence reconstruction methods. However, it remains unclear how well these methods perform for imbalanced genealogies. Such imbalances can arise from processes such as cultural transmission of reproductive success (CTRS) or positive selection. Using simulated genomic data, we benchmarked three major software packages, SINGER, Relate, and tsinfer, by comparing the imbalance of reconstructed trees by these methods with that of the true simulated trees, for three indices that quantify this imbalance. The three methods performed well under scenarios yielding balanced trees. However, their accuracy declined as imbalance increased. Performances also varied with mutation rate, recombination rate, and sample size. This study opens possibilities for applying these methods to infer CTRS or positive selection in large-scale genomic datasets, using simulation-based inference such as approximate Bayesian computation.

比较生殖成功传递下的ARG推理方法:树木不平衡的影响。
从基因组数据推断结瘤树已经成为群体遗传学的一个重要课题,特别是随着树序列重建方法的最新进展。然而,目前尚不清楚这些方法对不平衡谱系的表现如何。这种不平衡可以由生殖成功的文化传递(CTRS)或积极选择等过程引起。利用模拟基因组数据,我们对SINGER、Relate和tsinfer三个主要软件包进行基准测试,通过将这些方法重建的树木的不平衡与真实模拟树木的不平衡进行比较,以量化这种不平衡的三个指标。这三种方法在产生平衡树的情况下表现良好。然而,随着不平衡的增加,它们的准确性下降了。表现也随突变率、重组率和样本量的变化而变化。这项研究打开了应用这些方法在大规模基因组数据集中推断CTRS或正选择的可能性,使用基于模拟的推断,如近似贝叶斯计算。
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来源期刊
Genome Biology and Evolution
Genome Biology and Evolution EVOLUTIONARY BIOLOGY-GENETICS & HEREDITY
CiteScore
5.80
自引率
6.10%
发文量
169
审稿时长
1 months
期刊介绍: About the journal Genome Biology and Evolution (GBE) publishes leading original research at the interface between evolutionary biology and genomics. Papers considered for publication report novel evolutionary findings that concern natural genome diversity, population genomics, the structure, function, organisation and expression of genomes, comparative genomics, proteomics, and environmental genomic interactions. Major evolutionary insights from the fields of computational biology, structural biology, developmental biology, and cell biology are also considered, as are theoretical advances in the field of genome evolution. GBE’s scope embraces genome-wide evolutionary investigations at all taxonomic levels and for all forms of life — within populations or across domains. Its aims are to further the understanding of genomes in their evolutionary context and further the understanding of evolution from a genome-wide perspective.
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