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In 2006, Warnow, Evans, Ringe, and Nakhleh proposed a stochastic model (hereafter, the WERN 2006 model) of multi-state linguistic character evolution that allowed for homoplasy and borrowing. They proved that if there is no borrowing between languages and homoplastic states are known in advance, then the phylogenetic tree of a set of languages is statistically identifiable under this model, and they presented statistically consistent methods for estimating these phylogenetic trees. However, they left open the question of whether a phylogenetic network -- which would explicitly model borrowing between languages that are in contact -- can be estimated under the model of character evolution. Here, we establish that under some mild additional constraints on the WERN 2006 model, the phylogenetic network topology is statistically identifiable, and we present algorithms to infer the phylogenetic network. We discuss the ramifications for linguistic phylogenetic network estimation in practice, and suggest directions for future research., 14 pages, 2 figures

Community detection in real-world networks is typically addressed through the use of graph clustering methods that partition the nodes of a network into disjoint subsets. While the definition of community may vary, it is generally accepted that elements of a community should be ``well-connected". We evaluated clusters generated by the Leiden algorithm and the Iterative K-core (IKC) clustering algorithm for their susceptibility to become disconnected by the deletion of a small number of edges. A striking observation is that for Leiden clustering of real-world networks, except for cases with large resolution parameter values, the majority of clusters do not meet the relatively mild condition we enforce for well-connected clusters. We also constructed a modular pipeline to enable well-connected output clusters that allows a user-specified criterion for a valid community considering cluster size and minimum edge cut size and describe the use of this pipeline on real world and synthetic networks. An interesting trend we observed is that the final clusterings on real-world networks had small node coverage, suggesting that not all nodes in a network belong in communities.

Life on Earth has evolved from initial simplicity to the astounding complexity we experience today. Bacteria and archaea have largely excelled in metabolic diversification, but eukaryotes additionally display abundant morphological innovation. How have these innovations come about and what constraints are there on the origins of novelty and the continuing maintenance of biodiversity on Earth? The history of life and the code for the working parts of cells and systems are written in the genome. The Earth BioGenome Project has proposed that the genomes of all extant, named eukaryotes—about 2 million species—should be sequenced to high quality to produce a digital library of life on Earth, beginning with strategic phylogenetic, ecological, and high-impact priorities. Here we discuss why we should sequence all eukaryotic species, not just a representative few scattered across the many branches of the tree of life. We suggest that many questions of evolutionary and ecological significance will only be addressable when whole-genome data representing divergences at all of the branchings in the tree of life or all species in natural ecosystems are available. We envisage that a genomic tree of life will foster understanding of the ongoing processes of speciation, adaptation, and organismal dependencies within entire ecosystems. These explorations will resolve long-standing problems in phylogenetics, evolution, ecology, conservation, agriculture, bioindustry, and medicine.

Clustering and community detection in networks are of broad interest and have been the subject of extensive research that spans several fields. We are interested in the relatively narrow question of detecting communities of scientific publications that are linked by citations. These publication communities can be used to identify scientists with shared interests who form communities of researchers. Building on the well-known k-core algorithm, we have developed a modular pipeline to find publication communities. We compare our approach to communities discovered by the widely used Leiden algorithm for community finding. Using a quantitative and qualitative approach, we evaluate community finding results on a citation network consisting of over 14 million publications relevant to the field of extracellular vesicles.

Understanding the nature and organization of scientific communities is of broad interest. The `Invisible College' is a historical metaphor for one such type of community and the search for such `colleges' can be framed as the detection and analysis of small groups of scientists working on problems of common interests. Case studies have previously been conducted on individual communities with respect to their scientific and social behavior. In this study, we introduce, a new and scalable community finding approach. Supplemented by expert assessment, we use the convergence of two different clustering methods to select article clusters generated from over two million articles from the field of immunology spanning an eleven year period with relevant cluster quality indicators for evaluation. Finally, we identify author communities defined by these clusters. A sample of the article clusters produced by this pipeline was reviewed by experts, and shows strong thematic relatedness, suggesting that the inferred author communities may represent valid communities of practice. These findings suggest that such convergent approaches may be useful in the future.

Species tree estimation from multi-locus datasets is statistically challenging for multiple reasons, including gene tree heterogeneity across the genome due to incomplete lineage sorting (ILS). Species tree estimation methods have been developed that operate by estimating gene trees and then using those gene trees to estimate the species tree. Several of these methods (e.g., ASTRAL, ASTRID, and NJst) are provably statistically consistent under the multi-species coalescent (MSC) model, provided that the gene trees are estimated correctly, and there is no missing data. Recently, Nute et al. (BMC Genomics 2018) addressed the question of whether these methods remain statistically consistent under random models of taxon deletion, and asserted that they do so. Here we provide a counterexample to one of these theorems, and establish that ASTRID and NJst are not statistically consistent under an i.i.d. model of taxon deletion., 6 pages, no figures, provides counterexample to theorem (the first and corresponding author are both co-authors on this paper)

Species tree estimation is a basic part of much biological research, but can be challenging because of gene duplication and loss (GDL), which results in genes that can appear more than once in a given genome. To construct species trees from gene families, biologists typically pick one copy of each gene in each species (based on estimations of orthology), but orthology detection is not yet reliably accurate, and incorrect orthology inferences can result in incorrect species trees. Re-stricting datasets to single-copy genes is another common solution, but this reduces the amount of available data, which is undesirable (and even genes that appear to be single-copy may have evolved with duplication and loss). Thus, all common approaches in phylogenomics reduce available data and are error-prone, and methods that do not discard data and have high accuracy on large heterogeneous datasets are needed. Here, we present FastMulRFS, a method for estimating species trees from multrees. We prove that FastMulRFS is polynomial time and statistically consistent under a generic model of gene duplication and loss provided that only duplications occur or only losses occur. We present the results of an extensive simulation study where gene tree heterogeneity is due to gene duplication and loss, incomplete lineage sorting,and gene tree estimation error, and show that FastMulRFS matches the accuracy of MulRF (which tries to solve the same optimization problem) and has better accuracy than ASTRAL-multi (which is statistically consistent under GDL), while being much faster than both methods.

Species tree estimation is a complex problem, due to the fact that different parts of the genome can have different evolutionary histories than the genome itself. One of the causes for this discord is incomplete lineage sorting (also called deep coalescence), which is a population-level process that produces gene trees that differ from the species tree. The last decade has seen a large number of new methods developed to estimate species trees from multi-locus datasets, specifically addressing this cause of gene tree heterogeneity. In this paper, we review these methods, focusing mainly on issues that relate to analyses of datasets containing large numbers of species or loci (or both). We also discuss divide-and-conquer strategies for enabling species tree estimation methods to run on large datasets, including new approaches that are based on algorithms (such as TreeMerge) for the Disjoint Tree Merger problem., 25 pages, no figures, submitted as a chapter for a book edited by Lacey Knowles and Laura Kubatko

Gene tree correction aims to improve the accuracy of a gene tree by using computational techniques along with a reference tree (and in some cases available sequence data). It is an active area of research when dealing with gene tree heterogeneity due to duplication and loss (GDL). Here, we study the problem of gene tree correction where gene tree heterogeneity is instead due to incomplete lineage sorting (ILS, a common problem in eukaryotic phylogenetics) and horizontal gene transfer (HGT, a common problem in bacterial phylogenetics). We introduce TRACTION, a simple polynomial time method that provably finds an optimal solution to the RF-Optimal Tree Refinement and Completion Problem, which seeks a refinement and completion of an input tree t with respect to a given binary tree T so as to minimize the Robinson-Foulds (RF) distance. We present the results of an extensive simulation study evaluating TRACTION within gene tree correction pipelines on 68,000 estimated gene trees, using estimated species trees as reference trees. We explore accuracy under conditions with varying levels of gene tree heterogeneity due to ILS and HGT. We show that TRACTION matches or improves the accuracy of well-established methods from the GDL literature under conditions with HGT and ILS, and ties for best under the ILS-only conditions. Furthermore, TRACTION ties for fastest on these datasets. TRACTION is available at https://github.com/pranjalv123/TRACTION-RF and the study datasets are available at https://doi.org/10.13012/B2IDB-1747658_V1.

Comparing genomes based on the order of genes provides insights into their evolutionary history and further allows to identify sets of genes with associated function. In the past two decades, many methods have been developed for identifying genomic regions that share homologous genes, which can be subsequently tested for functional associativity. As these methods are flexible by tolerating duplicate, missing, and intruding genes, we now study a case in which relationships between genes are established through a hierarchical relationship and thereby turn the problem of identifying regions with common functional associations inside out: We use a measure of dissimilarity between genes defined on a gene ontology hierarchy to identify collections of genomic regions with low functional dissimilarity.

Supertree construction is the process by which a set of phylogenetic trees, each on a subset of the overall set X of species, is combined into a tree on the full set S. The traditional use of supertree methods is the assembly of a large species tree from previously computed smaller species trees; however, supertree methods are also used to address large-scale tree estimation using divide-and-conquer (i.e., a dataset is divided into overlapping subsets, trees are constructed on the subsets, and then combined using the supertree method). Because most supertree methods are heuristics for NP-hard optimization problems, the use of supertree estimation on large datasets is challenging, both in terms of scalability and accuracy. In this paper, we describe the current state of the art in supertree construction and the use of supertree methods in divide-and-conquer strategies. Finally, we identify directions where future research could lead to improved supertree methods., 28 pages, will be part of Festschrift volume for Bernard More

Absolute fast converging (AFC) phylogeny estimation methods are ones that have been proven to recover the true tree with high probability given sequences whose lengths are polynomial in the number of number of leaves in the tree (once the shortest and longest branch lengths are fixed). While there has been a large literature on AFC methods, the best in terms of empirical performance was DCM_NJ, published in SODA 2001. The main empirical advantage of DCM_NJ over other AFC methods is its use of neighbor joining (NJ) to construct trees on smaller taxon subsets, which are then combined into a tree on the full set of species using a supertree method; in contrast, the other AFC methods in essence depend on quartet trees that are computed independently of each other, which reduces accuracy compared to neighbor joining. However, DCM_NJ is unlikely to scale to large datasets due to its reliance on supertree methods, as no current supertree methods are able to scale to large datasets with high accuracy. In this study we present a new approach to large-scale phylogeny estimation that shares some of the features of DCM_NJ but bypasses the use of supertree methods. We prove that this new approach is AFC and uses polynomial time. Furthermore, we describe variations on this basic approach that can be used with leaf-disjoint constraint trees (computed using methods such as maximum likelihood) to produce other AFC methods that are likely to provide even better accuracy. Thus, we present a new generalizable technique for large-scale tree estimation that is designed to improve scalability for phylogeny estimation methods to ultra-large datasets, and that can be used in a variety of settings (including tree estimation from unaligned sequences, and species tree estimation from gene trees).

Here we introduce the Optimal Tree Completion Problem, a general optimization problem that involves completing an unrooted binary tree (i.e., adding missing leaves) so as to minimize its distance from a reference tree on a superset of the leaves. More formally, given a pair of unrooted binary trees (T,t) where T has leaf set S and t has leaf set R, a subset of S, we wish to add all the leaves from S \ R to t so as to produce a new tree t' on leaf set S that has the minimum distance to T. We show that when the distance is defined by the Robinson-Foulds (RF) distance, an optimal solution can be found in polynomial time. We also present OCTAL, an algorithm that solves this RF Optimal Tree Completion Problem exactly in quadratic time. We report on a simulation study where we complete estimated gene trees using a reference tree that is based on a species tree estimated from a multi-locus dataset. OCTAL produces completed gene trees that are closer to the true gene trees than an existing heuristic approach, but the accuracy of the completed gene trees computed by OCTAL depends on how topologically similar the estimated species tree is to the true gene tree. Hence, under conditions with relatively low gene tree heterogeneity, OCTAL can be used to provide highly accurate completions of estimated gene trees. We close with a discussion of future research.

Next Generation Sequencing (NGS) data have begun to appear in many applications that are clinically relevant, such as resequencing of cancer patients, disease-gene discovery and diagnostics for rare diseases, microbiome analyses, and gene expression profiling. The analysis of sequencing data is demanding because of the enormous data volume and the need for fast turnaround time, accuracy, reproducibility, and data security. This Dagstuhl Seminar aimed at a free and deep exchange of ideas and needs between the communities of algorithmicists and theoreticians and practitioners from the biomedical field. It identified several relevant fields such as data structures and algorithms for large data sets, hardware acceleration, new problems in the upcoming age of genomes, etc. which were discussed in breakout groups.

The 1,000 plants (1KP) project is an international multi-disciplinary consortium that has generated transcriptome data from over 1,000 plant species, with exemplars for all of the major lineages across the Viridiplantae (green plants) clade. Here, we describe how to access the data used in a phylogenomics analysis of the first 85 species, and how to visualize our gene and species trees. Users can develop computational pipelines to analyse these data, in conjunction with data of their own that they can upload. Computationally estimated protein-protein interactions and biochemical pathways can be visualized at another site. Finally, we comment on our future plans and how they fit within this scalable system for the dissemination, visualization, and analysis of large multi-species data sets.

The breakpoint distance is one of the most straightforward genome comparison measures. Surprisingly, when it comes to define it precisely for multichromosomal genomes with both linear and circular chromosomes, there is more than one way to go about it. In this paper we study Single-Cut-or-Join (SCJ), a breakpoint-like rearrangement event for which we present linear and polynomial time algorithms that solve several genome rearrangement problems, such as median and halving. For the multichromosomal linear genome median problem, this is the first polynomial time algorithm described, since for other breakpoint distances this problem is NP-hard. These new results may be of value as a speedily computable, first approximation to distances or phylogenies based on more realistic rearrangement models.

In the eight years since phylogenomics was introduced as the intersection of genomics and phylogenetics, the field has provided fundamental insights into gene function, genome history and organismal relationships. The utility of phylogenomics is growing with the increase in the number and diversity of taxa for which whole genome and large transcriptome sequence sets are being generated. We assert that the synergy between genomic and phylogenetic perspectives in comparative biology would be enhanced by the development and refinement of minimal reporting standards for phylogenetic analyses. Encouraged by the development of the Minimum Information About a Microarray Experiment (MIAME) standard, we propose a similar roadmap for the development of a Minimal Information About a Phylogenetic Analysis (MIAPA) standard. Key in the successful development and implementation of such a standard will be broad participation by developers of phylogenetic analysis software, phylogenetic database developers, practitioners of phylogenomics, and journal editors.

Chaucer's Canterbury Tales consists of loosely-connected stories, appearing in many different orders in extant manuscripts. Differences in order result from rearrangements by scribes during copying, and may reveal relationships among manuscripts. Identifying these relationships is analogous to determining evolutionary relationships among organisms from the order of genes on a genome. We use gene order analysis to construct a stemma for the Canterbury Tales. This stemma shows relationships predicted by earlier scholars, reveals new relationships, and shares features with a word variation stemma. Our results support the idea that there was no established order when the first manuscripts were written. © 2003 Kluwer Academic Publishers. ispartof: pages:97-109 ispartof: Computers and the Humanities vol:37 issue:1 pages:97-109 ispartof: ACH/ALLC 2001 Conference location:NEW YORK: NEW YORK date:Jun 2001 status: published

High-quality and complete reference genome assemblies are fundamental for the application of genomics to biology, disease, and biodiversity conservation. However, such assemblies are available for only a few non-microbial species1-4. To address this issue, the international Genome 10K (G10K) consortium5,6 has worked over a five-year period to evaluate and develop cost-effective methods for assembling highly accurate and nearly complete reference genomes. Here we present lessons learned from generating assemblies for 16 species that represent six major vertebrate lineages. We confirm that long-read sequencing technologies are essential for maximizing genome quality, and that unresolved complex repeats and haplotype heterozygosity are major sources of assembly error when not handled correctly. Our assemblies correct substantial errors, add missing sequence in some of the best historical reference genomes, and reveal biological discoveries. These include the identification of many false gene duplications, increases in gene sizes, chromosome rearrangements that are specific to lineages, a repeated independent chromosome breakpoint in bat genomes, and a canonical GC-rich pattern in protein-coding genes and their regulatory regions. Adopting these lessons, we have embarked on the Vertebrate Genomes Project (VGP), an international effort to generate high-quality, complete reference genomes for all of the roughly 70,000 extant vertebrate species and to help to enable a new era of discovery across the life sciences.

Phylogenetic trees are commonly reconstructed based on hard optimization problems such as maximum parsimony (MP) and maximum likelihood (ML). Conventional MP heuristics for producing phylogenetic trees produce good solutions within reasonable time on small datasets (up to a few thousand sequences), while ML heuristics are limited to smaller datasets (up to a few hundred sequences). However, since MP (and presumably ML) is NP-hard, such approaches do not scale when applied to large datasets. In this paper, we present a new technique called Recursive-Iterative-DCM3 (Rec-I-DCM3), which belongs to our family of disk-covering methods (DCMs). We tested this new technique on ten large biological datasets ranging from 1,322 to 13,921 sequences and obtained dramatic speedups as well as significant improvements in accuracy (better than 99.99%) in comparison to existing approaches. Thus, high-quality reconstructions can be obtained for datasets at least ten times larger than was previously possible.

Green plants (Viridiplantae) include around 450,000–500,000 species1, 2 of great diversity and have important roles in terrestrial and aquatic ecosystems. Here, as part of the One Thousand Plant Transcriptomes Initiative, we sequenced the vegetative transcriptomes of 1,124 species that span the diversity of plants in a broad sense (Archaeplastida), including green plants (Viridiplantae), glaucophytes (Glaucophyta) and red algae (Rhodophyta). Our analysis provides a robust phylogenomic framework for examining the evolution of green plants. Most inferred species relationships are well supported across multiple species tree and supermatrix analyses, but discordance among plastid and nuclear gene trees at a few important nodes highlights the complexity of plant genome evolution, including polyploidy, periods of rapid speciation, and extinction. Incomplete sorting of ancestral variation, polyploidization and massive expansions of gene families punctuate the evolutionary history of green plants. Notably, we find that large expansions of gene families preceded the origins of green plants, land plants and vascular plants, whereas whole-genome duplications are inferred to have occurred repeatedly throughout the evolution of flowering plants and ferns. The increasing availability of high-quality plant genome sequences and advances in functional genomics are enabling research on genome evolution across the green tree of life.

The 1,000 plants (1KP) project is an international multi-disciplinary consortium that has generated transcriptome data from over 1,000 plant species, with exemplars for all of the major lineages across the Viridiplantae (green plants) clade. Here, we describe how to access the data used in a phylogenomics analysis of the first 85 species, and how to visualize our gene and species trees. Users can develop computational pipelines to analyse these data, in conjunction with data of their own that they can upload. Computationally estimated protein-protein interactions and biochemical pathways can be visualized at another site. Finally, we comment on our future plans and how they fit within this scalable system for the dissemination, visualization, and analysis of large multi-species data sets.

High-quality and complete reference genome assemblies are fundamental for the application of genomics to biology, disease, and biodiversity conservation. However, such assemblies are available for only a few non-microbial species1–4. To address this issue, the international Genome 10K (G10K) consortium5, 6 has worked over a five-year period to evaluate and develop cost-effective methods for assembling highly accurate and nearly complete reference genomes. Here we present lessons learned from generating assemblies for 16 species that represent six major vertebrate lineages. We confirm that long-read sequencing technologies are essential for maximizing genome quality, and that unresolved complex repeats and haplotype heterozygosity are major sources of assembly error when not handled correctly. Our assemblies correct substantial errors, add missing sequence in some of the best historical reference genomes, and reveal biological discoveries. These include the identification of many false gene duplications, increases in gene sizes, chromosome rearrangements that are specific to lineages, a repeated independent chromosome breakpoint in bat genomes, and a canonical GC-rich pattern in protein-coding genes and their regulatory regions. Adopting these lessons, we have embarked on the Vertebrate Genomes Project (VGP), an international effort to generate high-quality, complete reference genomes for all of the roughly 70,000 extant vertebrate species and to help to enable a new era of discovery across the life sciences.

We report on new techniques we have developed for reconstructing phylogenies on whole genomes. Our mathematical techniques include new polynomial-time methods for bounding the inversion length of a candidate tree and new polynomial-time methods for estimating genomic distances which greatly improve the accuracy of neighbor-joining analyses. We demonstrate the power of these techniques through an extensive performance study based on simulating genome evolution under a wide range of model conditions. Combining these new tools with standard approaches (fast reconstruction with neighbor-joining, exploration of all possible refinements of strict consensus trees, etc.) has allowed us to analyze datasets that were previously considered computationally impractical. In particular, we have conducted a complete phylogenetic analysis of a subset of the Campanulaceae family, confirming various conjectures about the relationships among members of the subset and about the principal mechanism of evolution for their chloroplast genome. We give representative results of the extensive experimentation we conducted on both real and simulated datasets in order to validate and characterize our approaches. We find that our techniques provide very accurate reconstructions of the true tree topology even when the data are generated by processes that include a significant fraction of transpositions and when the data are close to saturation.