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1. ASTRAL-Pro: Quartet-Based Species-Tree Inference despite Paralogy

   https://doi.org/10.1093/molbev/msaa139  

   Zhang, Chao; Scornavacca, Celine; Molloy, Erin K; Mirarab, Siavash (September 2020, Molecular Biology and Evolution)

   Thorne, Jeffrey (Ed.)

   Abstract Phylogenetic inference from genome-wide data (phylogenomics) has revolutionized the study of evolution because it enables accounting for discordance among evolutionary histories across the genome. To this end, summary methods have been developed to allow accurate and scalable inference of species trees from gene trees. However, most of these methods, including the widely used ASTRAL, can only handle single-copy gene trees and do not attempt to model gene duplication and gene loss. As a result, most phylogenomic studies have focused on single-copy genes and have discarded large parts of the data. Here, we first propose a measure of quartet similarity between single-copy and multicopy trees that accounts for orthology and paralogy. We then introduce a method called ASTRAL-Pro (ASTRAL for PaRalogs and Orthologs) to find the species tree that optimizes our quartet similarity measure using dynamic programing. By studying its performance on an extensive collection of simulated data sets and on real data sets, we show that ASTRAL-Pro is more accurate than alternative methods. 

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2. QuCo: quartet-based co-estimation of species trees and gene trees

   https://doi.org/10.1093/bioinformatics/btac265  

   Rabiee, Maryam; Mirarab, Siavash (June 2022, Bioinformatics)

   Abstract Motivation Phylogenomics faces a dilemma: on the one hand, most accurate species and gene tree estimation methods are those that co-estimate them; on the other hand, these co-estimation methods do not scale to moderately large numbers of species. The summary-based methods, which first infer gene trees independently and then combine them, are much more scalable but are prone to gene tree estimation error, which is inevitable when inferring trees from limited-length data. Gene tree estimation error is not just random noise and can create biases such as long-branch attraction. Results We introduce a scalable likelihood-based approach to co-estimation under the multi-species coalescent model. The method, called quartet co-estimation (QuCo), takes as input independently inferred distributions over gene trees and computes the most likely species tree topology and internal branch length for each quartet, marginalizing over gene tree topologies and ignoring branch lengths by making several simplifying assumptions. It then updates the gene tree posterior probabilities based on the species tree. The focus on gene tree topologies and the heuristic division to quartets enables fast likelihood calculations. We benchmark our method with extensive simulations for quartet trees in zones known to produce biased species trees and further with larger trees. We also run QuCo on a biological dataset of bees. Our results show better accuracy than the summary-based approach ASTRAL run on estimated gene trees. Availability and implementation QuCo is available on https://github.com/maryamrabiee/quco. Supplementary information Supplementary data are available at Bioinformatics online. 

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3. Completing gene trees without species trees in sub-quadratic time

   https://doi.org/10.1093/bioinformatics/btab875  

   Mai, Uyen; Mirarab, Siavash (January 2022, Bioinformatics)

   Schwartz, Russell (Ed.)

   Abstract Motivation As genome-wide reconstruction of phylogenetic trees becomes more widespread, limitations of available data are being appreciated more than ever before. One issue is that phylogenomic datasets are riddled with missing data, and gene trees, in particular, almost always lack representatives from some species otherwise available in the dataset. Since many downstream applications of gene trees require or can benefit from access to complete gene trees, it will be beneficial to algorithmically complete gene trees. Also, gene trees are often unrooted, and rooting them is useful for downstream applications. While completing and rooting a gene tree with respect to a given species tree has been studied, those problems are not studied in depth when we lack such a reference species tree. Results We study completion of gene trees without a need for a reference species tree. We formulate an optimization problem to complete the gene trees while minimizing their quartet distance to the given set of gene trees. We extend a seminal algorithm by Brodal et al. to solve this problem in quasi-linear time. In simulated studies and on a large empirical data, we show that completion of gene trees using other gene trees is relatively accurate and, unlike the case where a species tree is available, is unbiased. Availability and implementation Our method, tripVote, is available at https://github.com/uym2/tripVote. Supplementary information Supplementary data are available at Bioinformatics online. 

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4. Polynomial-Time Statistical Estimation of Species Trees Under Gene Duplication and Loss

   Legried, Brandon; Molloy, Erin K.; Warnow, Tandy; Roch, Sebastien (January 2020, International Conference on Research in Computational Molecular Biology (RECOMB 2020))

   Phylogenomics---the estimation of species trees from multi-locus datasets---is a common step in many biological studies. However, this estimation is challenged by the fact that genes can evolve under processes, including incomplete lineage sorting (ILS) and gene duplication and loss (GDL), that make their trees different from the species tree. In this paper, we address the challenge of estimating the species tree under GDL. We show that species trees are identifiable under a standard stochastic model for GDL, and that the polynomial-time algorithm ASTRAL-multi, a recent development in the ASTRAL suite of methods, is statistically consistent under this GDL model. We also provide a simulation study evaluating ASTRAL-multi for species tree estimation under GDL. All scripts and datasets used in this study are available on the Illinois Data Bank: https://doi.org/10.13012/B2IDB-2626814_V1. 

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5. SODA: multi-locus species delimitation using quartet frequencies

   https://doi.org/10.1093/bioinformatics/btaa1010  

   Rabiee, Maryam; Mirarab, Siavash (December 2020, Bioinformatics)

   Ponty, Yann (Ed.)

   Abstract Motivation Species delimitation, the process of deciding how to group a set of organisms into units called species, is one of the most challenging problems in computational evolutionary biology. While many methods exist for species delimitation, most based on the coalescent theory, few are scalable to very large datasets, and methods that scale tend to be not accurate. Species delimitation is closely related to species tree inference from discordant gene trees, a problem that has enjoyed rapid advances in recent years. Results In this article, we build on the accuracy and scalability of recent quartet-based methods for species tree estimation and propose a new method called SODA for species delimitation. SODA relies heavily on a recently developed method for testing zero branch length in species trees. In extensive simulations, we show that SODA can easily scale to very large datasets while maintaining high accuracy. Availability and implementation The code and data presented here are available on https://github.com/maryamrabiee/SODA. Supplementary information Supplementary data are available at Bioinformatics online. 

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