scholarly journals SimPhy: Phylogenomic Simulation of Gene, Locus and Species Trees

2015 ◽  
Author(s):  
Diego Mallo ◽  
Leonardo de Oliveira Martins ◽  
David Posada
Keyword(s):  
Incomplete Lineage Sorting ◽  
A Priori ◽  
Gene Tree ◽  
Gene Families ◽  
Rate Variation ◽  
Gene Trees ◽  
Species Trees ◽  
Lineage Sorting ◽  
Sequence Alignments ◽  
Large Trees

We present here a fast and flexible software–SimPhy–for the simulation of multiple gene families evolving under incomplete lineage sorting, gene duplication and loss, horizontal gene transfer—all three potentially leading to the species tree/gene tree discordance—and gene conversion. SimPhy implements a hierarchical phylogenetic model in which the evolution of species, locus and gene trees is governed by global and local parameters (e.g., genome-wide, species-specific, locus-specific), that can be fixed or be sampled from a priori statistical distributions. SimPhy also incorporates comprehensive models of substitution rate variation among lineages (uncorrelated relaxed clocks) and the capability of simulating partitioned nucleotide, codon and protein multilocus sequence alignments under a plethora of substitution models using the program INDELible. We validate SimPhy's output using theoretical expectations and other programs, and show that it scales extremely well with complex models and/or large trees, being an order of magnitude faster than the most similar program (DLCoal-Sim). In addition, we demonstrate how SimPhy can be useful to understand interactions among different evolutionary processes, conducting a simulation study to characterize the systematic overestimation of the duplication time when using standard reconciliation methods. SimPhy is available at https://github.com/adamallo/SimPhy, where users can find the source code, pre-compiled executables, a detailed manual and example cases.

scholarly journals Species Tree Estimation from Genome-wide Data with Guenomu

2015 ◽  
Author(s):  
Leonardo de Oliveira Martins ◽  
David Posada
Keyword(s):  
Incomplete Lineage Sorting ◽  
Gene Tree ◽  
Gene Families ◽  
Species Tree ◽  
Gene Trees ◽  
Species Trees ◽  
Lineage Sorting ◽  
Multiple Sources ◽  
Reconstruction Methods ◽  
Tree Topologies

The history of particular genes and that of the species that carry them can be different due to different reasons. In particular, gene trees and species trees can truly differ due to well-known evolutionary processes like gene duplication and loss, lateral gene transfer or incomplete lineage sorting. Different species tree reconstruction methods have been developed to take this incongruence into account, which can be divided grossly into supertree and supermatrix approaches. Here, we introduce a new Bayesian hierarchical model that we have recently developed and implemented in the program Guenomu, that considers multiple sources of gene tree/species tree disagreement. Guenomu takes as input the posterior distributions of unrooted gene tree topologies for multiple gene families, in order to estimate the posterior distribution of rooted species tree topologies.

Performance of Matrix Representation with Parsimony for Inferring Species from Gene Trees

2011 ◽  
Vol 10 (1) ◽  
Author(s):  
Yuancheng Wang ◽  
James H Degnan
Keyword(s):  
Matrix Representation ◽  
Incomplete Lineage Sorting ◽  
Gene Tree ◽  
Species Tree ◽  
Gene Trees ◽  
Species Trees ◽  
Lineage Sorting ◽  
Sequence Alignments ◽  
Input Gene ◽  
Supertree Methods

Phylogenomic datasets often contain sequence alignments on different subsets of taxa for different genes. A major goal of phylogenetics is often to combine estimated gene trees from many loci into an overall estimate of a species tree. When data are missing for some combinations of genes and taxa, supertree methods can be used to combine gene trees on different subsets of taxa into an overall tree. However, studies of the performance of supertree methods when gene tree conflict is due to incomplete lineage sorting are needed to understand their statistical properties in this setting.We find that Matrix Representation with Parsimony (MRP), the most commonly used supertree method, can in many cases infer the species tree in spite of high levels of conflict in the input gene trees. However, for some species trees with short branches, MRP can be increasingly likely to return a tree other than the species tree as the number of loci increases. In some cases, deleting taxa at random or using estimated (rather than known) gene trees can either improve or hinder MRP for recovering the species tree.Although MRP is able to handle large amounts of conflict in the input gene trees, MRP is not statistically consistent for estimating species trees when gene trees arise under the multispecies coalescent model. However, triplet MRP is statistically consistent in this setting.

scholarly journals Cause of gene tree discord? Distinguishing incomplete lineage sorting and lateral gene transfer in phylogenetics

2017 ◽  
Author(s):  
Huateng Huang ◽  
Jeet Sukumaran ◽  
Stephen A Smith ◽  
L.Lacey Knowles
Keyword(s):  
Gene Transfer ◽  
Lateral Gene Transfer ◽  
Incomplete Lineage Sorting ◽  
A Priori ◽  
Model Misspecification ◽  
Gene Tree ◽  
Gene Trees ◽  
Species Trees ◽  
Lineage Sorting ◽  
Individual Gene

Despite recent efforts that have produced data sets with hundreds and thousands of gene regions to resolve regions of the tree of life, recalcitrant nodes persist and disagreement among genes as well as disagreement between individual gene trees and species trees are common. There are a number of evolutionary processes that contribute to these conflicts between gene trees and species trees, including deep coalescence (lineage sorting), horizontal gene transfer or hybridization, etc. While for some of these processes, we have very powerful and sophisticated models that uses the conflict in the gene trees as information that contributes materially to correctly inferring the species tree, such as the multispecies coalescent (MSC). However, usage of these models require a priori recognition of relevant processes, which is often unknown for empirical dataset. Here we propose a new perspective to not only identify the cause of discord among gene trees, but also use it to classify loci by the underlying cause of discord to identify subsets of loci for analysis with the goal of improving phylogenetic accuracy. This approach differs fundamentally from all other criteria used for making decisions about which loci to include in a phylogenetic analysis. In particular, the choice of loci in this framework is based on identifying those that reflect descent from a common ancestor (as opposed to other processes), and thereby can minimize problems with model misspecification. We present preliminary results that demonstrate the potential of this framework in distinguishing the lateral gene transfer (LGT) from incomplete lineage sorting (ILS) process, as implemented in a new software package CLASSIPHY, while also highlighting areas for further development and testing. We discussed why such methods (i) are critical to improving phylogenetic accuracy with the increased complexity of genomic/transcriptomic datasets, and that (ii) characterizing patterns of discordance and the contribution of different processes to this discordance is itself of interest for generating hypotheses about the role of lateral gene transfer, gene duplication, and incomplete lineage sorting during the divergence of different taxa.

scholarly journals Cause of gene tree discord? Distinguishing incomplete lineage sorting and lateral gene transfer in phylogenetics

2017 ◽  
Author(s):  
Huateng Huang ◽  
Jeet Sukumaran ◽  
Stephen A Smith ◽  
L.Lacey Knowles
Keyword(s):  
Gene Transfer ◽  
Lateral Gene Transfer ◽  
Incomplete Lineage Sorting ◽  
A Priori ◽  
Model Misspecification ◽  
Gene Tree ◽  
Gene Trees ◽  
Species Trees ◽  
Lineage Sorting ◽  
Individual Gene

Despite recent efforts that have produced data sets with hundreds and thousands of gene regions to resolve regions of the tree of life, recalcitrant nodes persist and disagreement among genes as well as disagreement between individual gene trees and species trees are common. There are a number of evolutionary processes that contribute to these conflicts between gene trees and species trees, including deep coalescence (lineage sorting), horizontal gene transfer or hybridization, etc. While for some of these processes, we have very powerful and sophisticated models that uses the conflict in the gene trees as information that contributes materially to correctly inferring the species tree, such as the multispecies coalescent (MSC). However, usage of these models require a priori recognition of relevant processes, which is often unknown for empirical dataset. Here we propose a new perspective to not only identify the cause of discord among gene trees, but also use it to classify loci by the underlying cause of discord to identify subsets of loci for analysis with the goal of improving phylogenetic accuracy. This approach differs fundamentally from all other criteria used for making decisions about which loci to include in a phylogenetic analysis. In particular, the choice of loci in this framework is based on identifying those that reflect descent from a common ancestor (as opposed to other processes), and thereby can minimize problems with model misspecification. We present preliminary results that demonstrate the potential of this framework in distinguishing the lateral gene transfer (LGT) from incomplete lineage sorting (ILS) process, as implemented in a new software package CLASSIPHY, while also highlighting areas for further development and testing. We discussed why such methods (i) are critical to improving phylogenetic accuracy with the increased complexity of genomic/transcriptomic datasets, and that (ii) characterizing patterns of discordance and the contribution of different processes to this discordance is itself of interest for generating hypotheses about the role of lateral gene transfer, gene duplication, and incomplete lineage sorting during the divergence of different taxa.

scholarly journals How to Tackle Phylogenetic Discordance in Recent and Rapidly Radiating Groups? Developing a Workflow Using Loricaria (Asteraceae) as an Example

2022 ◽  
Vol 12 ◽  
Author(s):  
Martha Kandziora ◽  
Petr Sklenář ◽  
Filip Kolář ◽  
Roswitha Schmickl
Keyword(s):  
Incomplete Lineage Sorting ◽  
Gene Tree ◽  
Species Tree ◽  
Secondary Contact ◽  
Gene Trees ◽  
Species Trees ◽  
Lineage Sorting ◽  
Phylogenetic Discordance ◽  
Gene Tree Discordance ◽  
High Degree

A major challenge in phylogenetics and -genomics is to resolve young rapidly radiating groups. The fast succession of species increases the probability of incomplete lineage sorting (ILS), and different topologies of the gene trees are expected, leading to gene tree discordance, i.e., not all gene trees represent the species tree. Phylogenetic discordance is common in phylogenomic datasets, and apart from ILS, additional sources include hybridization, whole-genome duplication, and methodological artifacts. Despite a high degree of gene tree discordance, species trees are often well supported and the sources of discordance are not further addressed in phylogenomic studies, which can eventually lead to incorrect phylogenetic hypotheses, especially in rapidly radiating groups. We chose the high-Andean Asteraceae genus Loricaria to shed light on the potential sources of phylogenetic discordance and generated a phylogenetic hypothesis. By accounting for paralogy during gene tree inference, we generated a species tree based on hundreds of nuclear loci, using Hyb-Seq, and a plastome phylogeny obtained from off-target reads during target enrichment. We observed a high degree of gene tree discordance, which we found implausible at first sight, because the genus did not show evidence of hybridization in previous studies. We used various phylogenomic analyses (trees and networks) as well as the D-statistics to test for ILS and hybridization, which we developed into a workflow on how to tackle phylogenetic discordance in recent radiations. We found strong evidence for ILS and hybridization within the genus Loricaria. Low genetic differentiation was evident between species located in different Andean cordilleras, which could be indicative of substantial introgression between populations, promoted during Pleistocene glaciations, when alpine habitats shifted creating opportunities for secondary contact and hybridization.

scholarly journals Terraces in Gene Tree Reconciliation-Based Species Tree Inference

2020 ◽  
Author(s):  
Michael J. Sanderson ◽  
Michelle M. McMahon ◽  
Mike Steel
Keyword(s):  
Incomplete Lineage Sorting ◽  
Gene Tree ◽  
Solution Space ◽  
Species Tree ◽  
Gene Trees ◽  
Species Trees ◽  
Lineage Sorting ◽  
Data Set ◽  
Tree Reconciliation ◽  
The Impact

AbstractTerraces in phylogenetic tree space are sets of trees with identical optimality scores for a given data set, arising from missing data. These were first described for multilocus phylogenetic data sets in the context of maximum parsimony inference and maximum likelihood inference under certain model assumptions. Here we show how the mathematical properties that lead to terraces extend to gene tree - species tree problems in which the gene trees are incomplete. Inference of species trees from either sets of gene family trees subject to duplication and loss, or allele trees subject to incomplete lineage sorting, can exhibit terraces in their solution space. First, we show conditions that lead to a new kind of terrace, which stems from subtree operations that appear in reconciliation problems for incomplete trees. Then we characterize when terraces of both types can occur when the optimality criterion for tree search is based on duplication, loss or deep coalescence scores. Finally, we examine the impact of assumptions about the causes of losses: whether they are due to imperfect sampling or true evolutionary deletion.

scholarly journals Phylogenomic terraces: presence and implication in species tree estimation from gene trees

2020 ◽  
Author(s):  
Ishrat Tanzila Farah ◽  
Md Muktadirul Islam ◽  
Kazi Tasnim Zinat ◽  
Atif Hasan Rahman ◽  
Md Shamsuzzoha Bayzid
Keyword(s):  
Incomplete Lineage Sorting ◽  
Gene Tree ◽  
Species Tree ◽  
Gene Trees ◽  
Species Trees ◽  
Lineage Sorting ◽  
Deep Coalescence ◽  
Tree Estimation ◽  
Tree Space ◽  
Multiple Species

AbstractSpecies tree estimation from multi-locus dataset is extremely challenging, especially in the presence of gene tree heterogeneity across the genome due to incomplete lineage sorting (ILS). Summary methods have been developed which estimate gene trees and then combine the gene trees to estimate a species tree by optimizing various optimization scores. In this study, we have formalized the concept of “phylogenomic terraces” in the species tree space, where multiple species trees with distinct topologies may have exactly the same optimization score (quartet score, extra lineage score, etc.) with respect to a collection of gene trees. We investigated the presence and implication of terraces in species tree estimation from multi-locus data by taking ILS into account. We analyzed two of the most popular ILS-aware optimization criteria: maximize quartet consistency (MQC) and minimize deep coalescence (MDC). Methods based on MQC are provably statistically consistent, whereas MDC is not a consistent criterion for species tree estimation. Our experiments, on a collection of dataset simulated under ILS, indicate that MDC-based methods may achieve competitive or identical quartet consistency score as MQC but could be significantly worse than MQC in terms of tree accuracy – demonstrating the presence and affect of phylogenomic terraces. This is the first known study that formalizes the concept of phylogenomic terraces in the context of species tree estimation from multi-locus data, and reports the presence and implications of terraces in species tree estimation under ILS.

scholarly journals A phylogenomic study of Steganinae fruit flies (Diptera: Drosophilidae): strong gene tree heterogeneity and evidence for monophyly

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Guilherme Rezende Dias ◽  
Eduardo Guimarães Dupim ◽  
Thyago Vanderlinde ◽  
Beatriz Mello ◽  
Antonio Bernardo Carvalho
Keyword(s):  
Gene Annotation ◽  
Incomplete Lineage Sorting ◽  
Branching Processes ◽  
Gene Tree ◽  
Morphological Characters ◽  
Species Tree ◽  
Small Sample ◽  
Gene Trees ◽  
Species Trees ◽  
Lineage Sorting

Abstract Background The Drosophilidae family is traditionally divided into two subfamilies: Drosophilinae and Steganinae. This division is based on morphological characters, and the two subfamilies have been treated as monophyletic in most of the literature, but some molecular phylogenies have suggested Steganinae to be paraphyletic. To test the paraphyletic-Steganinae hypothesis, here, we used genomic sequences of eight Drosophilidae (three Steganinae and five Drosophilinae) and two Ephydridae (outgroup) species and inferred the phylogeny for the group based on a dataset of 1,028 orthologous genes present in all species (> 1,000,000 bp). This dataset includes three genera that broke the monophyly of the subfamilies in previous works. To investigate possible biases introduced by small sample sizes and automatic gene annotation, we used the same methods to infer species trees from a set of 10 manually annotated genes that are commonly used in phylogenetics. Results Most of the 1,028 gene trees depicted Steganinae as paraphyletic with distinct topologies, but the most common topology depicted it as monophyletic (43.7% of the gene trees). Despite the high levels of gene tree heterogeneity observed, species tree inference in ASTRAL, in PhyloNet, and with the concatenation approach strongly supported the monophyly of both subfamilies for the 1,028-gene dataset. However, when using the concatenation approach to infer a species tree from the smaller set of 10 genes, we recovered Steganinae as a paraphyletic group. The pattern of gene tree heterogeneity was asymmetrical and thus could not be explained solely by incomplete lineage sorting (ILS). Conclusions Steganinae was clearly a monophyletic group in the dataset that we analyzed. In addition to ILS, gene tree discordance was possibly the result of introgression, suggesting complex branching processes during the early evolution of Drosophilidae with short speciation intervals and gene flow. Our study highlights the importance of genomic data in elucidating contentious phylogenetic relationships and suggests that phylogenetic inference for drosophilids based on small molecular datasets should be performed cautiously. Finally, we suggest an approach for the correction and cleaning of BUSCO-derived genomic datasets that will be useful to other researchers planning to use this tool for phylogenomic studies.

scholarly journals Recent Progress on Methods for Estimating and Updating Large Phylogenies

2021 ◽  
Author(s):  
Paul Zaharias ◽  
Tandy Warnow
Keyword(s):  
Sequence Data ◽  
Incomplete Lineage Sorting ◽  
Divide And Conquer ◽  
Estimation Methods ◽  
Gene Trees ◽  
Species Trees ◽  
Lineage Sorting ◽  
Multiple Sequence ◽  
Large Gene ◽  
Large Trees

With the increased availability of sequence data and even of fully sequenced and assembled genomes, phylogeny estimation of very large trees (even of hundreds of thousands of sequences) is now a goal for some biologists. Yet, the construction of these phylogenies is a complex pipeline presenting analytical and computational challenges, especially when the number of sequences is very large. In the last few years, new methods have been developed that aim to enable highly accurate phylogeny estimations on these large datasets, including divide-and-conquer techniques for multiple sequence alignment and/or tree estimation, methods that can estimate species trees from multi-locus datasets while addressing heterogeneity due to biological processes (e.g., incomplete lineage sorting and gene duplication and loss), and methods to add sequences into large gene trees or species trees. Here we present some of these recent advances and discuss opportunities for future improvements.

scholarly journals wQFM: Statistically Consistent Genome-scale Species Tree Estimation from Weighted Quartets

2020 ◽  
Author(s):  
Mahim Mahbub ◽  
Zahin Wahab ◽  
Rezwana Reaz ◽  
M. Saifur Rahman ◽  
Md. Shamsuzzoha Bayzid
Keyword(s):  
Incomplete Lineage Sorting ◽  
Gene Tree ◽  
Accurate Method ◽  
Species Tree ◽  
Estimation Methods ◽  
Gene Trees ◽  
Species Trees ◽  
Lineage Sorting ◽  
Tree Estimation ◽  
Source Form

AbstractMotivationSpecies tree estimation from genes sampled from throughout the whole genome is complicated due to the gene tree-species tree discordance. Incomplete lineage sorting (ILS) is one of the most frequent causes for this discordance, where alleles can coexist in populations for periods that may span several speciation events. Quartet-based summary methods for estimating species trees from a collection of gene trees are becoming popular due to their high accuracy and statistical guarantee under ILS. Generating quartets with appropriate weights, where weights correspond to the relative importance of quartets, and subsequently amalgamating the weighted quartets to infer a single coherent species tree allows for a statistically consistent way of estimating species trees. However, handling weighted quartets is challenging.ResultsWe propose wQFM, a highly accurate method for species tree estimation from multi-locus data, by extending the quartet FM (QFM) algorithm to a weighted setting. wQFM was assessed on a collection of simulated and real biological datasets, including the avian phylogenomic dataset which is one of the largest phylogenomic datasets to date. We compared wQFM with wQMC, which is the best alternate method for weighted quartet amalgamation, and with ASTRAL, which is one of the most accurate and widely used coalescent-based species tree estimation methods. Our results suggest that wQFM matches or improves upon the accuracy of wQMC and ASTRAL.AvailabilitywQFM is available in open source form at https://github.com/Mahim1997/wQFM-2020.

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