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1. Species Tree Inference Methods Intended to Deal with Incomplete Lineage Sorting Are Robust to the Presence of Paralogs

   https://doi.org/10.1093/sysbio/syab056  

   Yan, Zhi; Smith, Megan L; Du, Peng; Hahn, Matthew W; Nakhleh, Luay (July 2021, Systematic Biology)

   Kubatko, Laura (Ed.)

   Abstract Many recent phylogenetic methods have focused on accurately inferring species trees when there is gene tree discordance due to incomplete lineage sorting (ILS). For almost all of these methods, and for phylogenetic methods in general, the data for each locus are assumed to consist of orthologous, single-copy sequences. Loci that are present in more than a single copy in any of the studied genomes are excluded from the data. These steps greatly reduce the number of loci available for analysis. The question we seek to answer in this study is: what happens if one runs such species tree inference methods on data where paralogy is present, in addition to or without ILS being present? Through simulation studies and analyses of two large biological data sets, we show that running such methods on data with paralogs can still provide accurate results. We use multiple different methods, some of which are based directly on the multispecies coalescent model, and some of which have been proven to be statistically consistent under it. We also treat the paralogous loci in multiple ways: from explicitly denoting them as paralogs, to randomly selecting one copy per species. In all cases, the inferred species trees are as accurate as equivalent analyses using single-copy orthologs. Our results have significant implications for the use of ILS-aware phylogenomic analyses, demonstrating that they do not have to be restricted to single-copy loci. This will greatly increase the amount of data that can be used for phylogenetic inference.[Gene duplication and loss; incomplete lineage sorting; multispecies coalescent; orthology; paralogy.] 

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2. Statistically Consistent Rooting of Species Trees Under the Multispecies Coalescent Model

   https://doi.org/10.1007/978-3-031-29119-7_3  

   Tabatabaee, Y.; Roch, S.; Warnow, T. (April 2023, Research in Computational Molecular Biology. RECOMB 2023. Lecture Notes in Computer Science. Springer.)

   Tang, H. (Ed.)

   Rooted species trees are used in several downstream applications of phylogenetics. Most species tree estimation methods produce unrooted trees and additional methods are then used to root these unrooted trees. Recently, Quintet Rooting (QR) (Tabatabaee et al., ISMB and Bioinformatics 2022), a polynomial-time method for rooting an unrooted species tree given unrooted gene trees under the multispecies coalescent, was introduced. QR, which is based on a proof of identifiability of rooted 5-taxon trees in the presence of incomplete lineage sorting, was shown to have good accuracy, improving over other methods for rooting species trees when incomplete lineage sorting was the only cause of gene tree discordance, except when gene tree estimation error was very high. However, the statistical consistency of QR was left as an open question. Here, we present QR-STAR, a polynomial-time variant of QR that has an additional step for determining the rooted shape of each quintet tree. We prove that QR-STAR is statistically consistent under the multispecies coalescent model, and our simulation study shows that QR-STAR matches or improves on the accuracy of QR. QR-STAR is available in open source form at https://github.com/ytabatabaee/Quintet-Rooting. 

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3. Identifying model violations under the multispecies coalescent model using P2C2M.SNAPP

   https://doi.org/10.7717/peerj.8271  

   Duckett, Drew J.; Pelletier, Tara A.; Carstens, Bryan C. (January 2020, PeerJ)

   Phylogenetic estimation under the multispecies coalescent model (MSCM) assumes all incongruence among loci is caused by incomplete lineage sorting. Therefore, applying the MSCM to datasets that contain incongruence that is caused by other processes, such as gene flow, can lead to biased phylogeny estimates. To identify possible bias when using the MSCM, we present P2C2M.SNAPP. P2C2M.SNAPP is an R package that identifies model violations using posterior predictive simulation. P2C2M.SNAPP uses the posterior distribution of species trees output by the software package SNAPP to simulate posterior predictive datasets under the MSCM, and then uses summary statistics to compare either the empirical data or the posterior distribution to the posterior predictive distribution to identify model violations. In simulation testing, P2C2M.SNAPP correctly classified up to 83% of datasets (depending on the summary statistic used) as to whether or not they violated the MSCM model. P2C2M.SNAPP represents a user-friendly way for researchers to perform posterior predictive model checks when using the popular SNAPP phylogenetic estimation program. It is freely available as an R package, along with additional program details and tutorials. 

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4. Phylogenomic branch length estimation using quartets

   https://doi.org/10.1093/bioinformatics/btad221  

   Tabatabaee, Yasamin; Zhang, Chao; Warnow, Tandy; Mirarab, Siavash (June 2023, Bioinformatics)

   Abstract MotivationBranch lengths and topology of a species tree are essential in most downstream analyses, including estimation of diversification dates, characterization of selection, understanding adaptation, and comparative genomics. Modern phylogenomic analyses often use methods that account for the heterogeneity of evolutionary histories across the genome due to processes such as incomplete lineage sorting. However, these methods typically do not generate branch lengths in units that are usable by downstream applications, forcing phylogenomic analyses to resort to alternative shortcuts such as estimating branch lengths by concatenating gene alignments into a supermatrix. Yet, concatenation and other available approaches for estimating branch lengths fail to address heterogeneity across the genome. ResultsIn this article, we derive expected values of gene tree branch lengths in substitution units under an extension of the multispecies coalescent (MSC) model that allows substitutions with varying rates across the species tree. We present CASTLES, a new technique for estimating branch lengths on the species tree from estimated gene trees that uses these expected values, and our study shows that CASTLES improves on the most accurate prior methods with respect to both speed and accuracy. Availability and implementationCASTLES is available at https://github.com/ytabatabaee/CASTLES. 

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5. Sage Insights Into the Phylogeny of Salvia: Dealing With Sources of Discordance Within and Across Genomes

   https://doi.org/10.3389/fpls.2021.767478  

   Rose, Jeffrey P.; Kriebel, Ricardo; Kahan, Larissa; DiNicola, Alexa; González-Gallegos, Jesús G.; Celep, Ferhat; Lemmon, Emily M.; Lemmon, Alan R.; Sytsma, Kenneth J.; Drew, Bryan T. (November 2021, Frontiers in Plant Science)

   Next-generation sequencing technologies have facilitated new phylogenomic approaches to help clarify previously intractable relationships while simultaneously highlighting the pervasive nature of incongruence within and among genomes that can complicate definitive taxonomic conclusions. Salvia L., with ∼1,000 species, makes up nearly 15% of the species diversity in the mint family and has attracted great interest from biologists across subdisciplines. Despite the great progress that has been achieved in discerning the placement of Salvia within Lamiaceae and in clarifying its infrageneric relationships through plastid, nuclear ribosomal, and nuclear single-copy genes, the incomplete resolution has left open major questions regarding the phylogenetic relationships among and within the subgenera, as well as to what extent the infrageneric relationships differ across genomes. We expanded a previously published anchored hybrid enrichment dataset of 35 exemplars of Salvia to 179 terminals. We also reconstructed nearly complete plastomes for these samples from off-target reads. We used these data to examine the concordance and discordance among the nuclear loci and between the nuclear and plastid genomes in detail, elucidating both broad-scale and species-level relationships within Salvia . We found that despite the widespread gene tree discordance, nuclear phylogenies reconstructed using concatenated, coalescent, and network-based approaches recover a common backbone topology. Moreover, all subgenera, except for Audibertia , are strongly supported as monophyletic in all analyses. The plastome genealogy is largely resolved and is congruent with the nuclear backbone. However, multiple analyses suggest that incomplete lineage sorting does not fully explain the gene tree discordance. Instead, horizontal gene flow has been important in both the deep and more recent history of Salvia . Our results provide a robust species tree of Salvia across phylogenetic scales and genomes. Future comparative analyses in the genus will need to account for the impacts of hybridization/introgression and incomplete lineage sorting in topology and divergence time estimation. 

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