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On the Identifiability of Phylogenetic Networks under a Pseudolikelihood model

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 Added by Claudia Solis-Lemus
 Publication date 2020
  fields Biology
and research's language is English




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The Tree of Life is the graphical structure that represents the evolutionary process from single-cell organisms at the origin of life to the vast biodiversity we see today. Reconstructing this tree from genomic sequences is challenging due to the variety of biological forces that shape the signal in the data, and many of those processes like incomplete lineage sorting and hybridization can produce confounding information. Here, we present the mathematical version of the identifiability proofs of phylogenetic networks under the pseudolikelihood model in SNaQ. We establish that the ability to detect different hybridization events depends on the number of nodes on the hybridization blob, with small blobs (corresponding to closely related species) being the hardest to be detected. Our work focuses on level-1 networks, but raises attention to the importance of identifiability studies on phylogenetic inference methods for broader classes of networks.



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Maximum likelihood estimators are used extensively to estimate unknown parameters of stochastic trait evolution models on phylogenetic trees. Although the MLE has been proven to converge to the true value in the independent-sample case, we cannot appeal to this result because trait values of different species are correlated due to shared evolutionary history. In this paper, we consider a $2$-state symmetric model for a single binary trait and investigate the theoretical properties of the MLE for the transition rate in the large-tree limit. Here, the large-tree limit is a theoretical scenario where the number of taxa increases to infinity and we can observe the trait values for all species. Specifically, we prove that the MLE converges to the true value under some regularity conditions. These conditions ensure that the tree shape is not too irregular, and holds for many practical scenarios such as trees with bounded edges, trees generated from the Yule (pure birth) process, and trees generated from the coalescent point process. Our result also provides an upper bound for the distance between the MLE and the true value.
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