Studying Evolutionary Change: Transdisciplinary Advances in Understanding and Measuring Evolution

Evolutionary processes can be found in almost any historical, i.e. evolving, system that erroneously copies from the past. Well studied examples do not only originate in evolutionary biology but also in historical linguistics. Yet an approach that would bind together studies of such evolving systems is still elusive. This thesis is an attempt to narrowing down this gap to some extend. An evolving system can be described using characters that identify their changing features. While the problem of a proper choice of characters is beyond the scope of this thesis and remains in the hands of experts we concern ourselves with some theoretical as well data driven approaches. Having a well chosen set of characters describing a system of different entities such as homologous genes, i.e. genes of same origin in different species, we can build a phylogenetic tree. Consider the special case of gene clusters containing paralogous genes, i.e. genes of same origin within a species usually located closely, such as the well known HOX cluster. These are formed by step- wise duplication of its members, often involving unequal crossing over forming hybrid genes. Gene conversion and possibly other mechanisms of concerted evolution further obfuscate phylogenetic relationships. Hence, it is very difficult or even impossible to disentangle the detailed history of gene duplications in gene clusters. Expanding gene clusters that use unequal crossing over as proposed by Walter Gehring leads to distinctive patterns of genetic distances. We show that this special class of distances helps in extracting phylogenetic information from the data still. Disregarding genome rearrangements, we find that the shortest Hamiltonian path then coincides with the ordering of paralogous genes in a cluster. This observation can be used to detect ancient genomic rearrangements of gene clus- ters and to distinguish gene clusters whose evolution was dominated by unequal crossing over within genes from those that expanded through other mechanisms. While the evolution of DNA or protein sequences is well studied and can be formally described, we find that this does not hold for other systems such as language evolution. This is due to a lack of detectable mechanisms that drive the evolutionary processes in other fields. Hence, it is hard to quantify distances between entities, e.g. languages, and therefore the characters describing them. Starting out with distortions of distances, we first see that poor choices of the distance measure can lead to incorrect phylogenies. Given that phylogenetic inference requires additive metrics we can infer the correct phylogeny from a distance matrix D if there is a monotonic, subadditive function ζ such that ζ^−1(D) is additive. We compute the metric-preserving transformation ζ as the solution of an optimization problem. This result shows that the problem of phylogeny reconstruction is well defined even if a detailed mechanistic model of the evolutionary process is missing. Yet, this does not hinder studies of language evolution using automated tools. As the amount of available and large digital corpora increased so did the possibilities to study them automatically. The obvious parallels between historical linguistics and phylogenetics lead to many studies adapting bioinformatics tools to fit linguistics means. Here, we use jAlign to calculate bigram alignments, i.e. an alignment algorithm that operates with regard to adjacency of letters. Its performance is tested in different cognate recognition tasks. Using pairwise alignments one major obstacle is the systematic errors they make such as underestimation of gaps and their misplacement. Applying multiple sequence alignments instead of a pairwise algorithm implicitly includes more evolutionary information and thus can overcome the problem of correct gap placement. They can be seen as a generalization of the string-to-string edit problem to more than two strings. With the steady increase in computational power, exact, dynamic programming solutions have become feasible in practice also for 3- and 4-way alignments. For the pairwise (2-way) case, there is a clear distinction between local and global alignments. As more sequences are consid- ered, this distinction, which can in fact be made independently for both ends of each sequence, gives rise to a rich set of partially local alignment problems. So far these have remained largely unexplored. Thus, a general formal frame- work that gives raise to a classification of partially local alignment problems is introduced. It leads to a generic scheme that guides the principled design of exact dynamic programming solutions for particular partially local alignment problems

The matroid structure of representative triple sets and triple-closure computation

The closure cl (R) of a consistent set R of triples (rooted binary trees on three leaves) provides essential information about tree-like relations that are shown by any supertree that displays all triples in . In this contribution, we are concerned with representative triple sets, that is, subsets R' of R with cl (R') = cl . In this case, R' still contains all information on the tree structure implied by R, although R' might be significantly smaller. We show that representative triple sets that are minimal w.r.t. inclusion form the basis of a matroid. This in turn implies that minimal representative triple sets also have minimum cardinality. In particular, the matroid structure can be used to show that minimum representative triple sets can be computed in polynomial time with a simple greedy approach. For a given triple set R that “identifies” a tree, we provide an exact value for the cardinality of its minimum representative triple sets. In addition, we utilize the latter results to provide a novel and efficient method to compute the closure cl (R) of a consistent triple set R that improves the time complexity (R Lr 4) of the currently fastest known method proposed by Bryant and Steel (1995). In particular, if a minimum representative triple set for R is given, it can be shown that the time complexity to compute cl (R) can be improved by a factor up to R Lr . As it turns out, collections of quartets (unrooted binary trees on four leaves) do not provide a matroid structure, in general

Metric Graph Approximations of Geodesic Spaces

A standard result in metric geometry is that every compact geodesic metric space can be approximated arbitrarily well by finite metric graphs in the Gromov-Hausdorff sense. It is well known that the first Betti number of the approximating graphs may blow up as the approximation gets finer. In our work, given a compact geodesic metric space $X$, we define a sequence $(\delta^X_n)_{n \geq 0}$ of non-negative real numbers by $$\delta^X_n:=\inf \{d_{\mathrm{GH}}(X,G): G \text{ a finite metric graph, } \beta_1(G)\leq n \} .$$ By construction, and the above result, this is a non-increasing sequence with limit $0$. We study this sequence and its rates of decay with $n$. We also identify a precise relationship between the sequence and the first Vietoris-Rips persistence barcode of $X$. Furthermore, we specifically analyze $\delta_0^X$ and find upper and lower bounds based on hyperbolicity and other metric invariants. As a consequence of the tools we develop, our work also provides a Gromov-Hausdorff stability result for the Reeb construction on geodesic metric spaces with respect to the function given by distance to a reference point

Enumeration of far-apart pairs by decreasing distance for faster hyperbolicity computation

Hyperbolicity is a graph parameter which indicates how much the shortest-path distance metric of a graph deviates from a tree metric. It is used in various fields such as networking, security, and bioinformatics for the classification of complex networks, the design of routing schemes, and the analysis of graph algorithms. Despite recent progress, computing the hyperbolicity of a graph remains challenging. Indeed, the best known algorithm has time complexity O(n^{3.69}), which is prohibitive for large graphs, and the most efficient algorithms in practice have space complexity O(n^2). Thus, time as well as space are bottlenecks for computing the hyperbolicity. In this paper, we design a tool for enumerating all far-apart pairs of a graph by decreasing distances. A node pair (u, v) of a graph is far-apart if both v is a leaf of all shortest-path trees rooted at u and u is a leaf of all shortest-path trees rooted at v. This notion was previously used to drastically reduce the computation time for hyperbolicity in practice. However, it required the computation of the distance matrix to sort all pairs of nodes by decreasing distance, which requires an infeasible amount of memory already for medium-sized graphs. We present a new data structure that avoids this memory bottleneck in practice and for the first time enables computing the hyperbolicity of several large graphs that were far out-of-reach using previous algorithms. For some instances, we reduce the memory consumption by at least two orders of magnitude. Furthermore, we show that for many graphs, only a very small fraction of far-apart pairs have to be considered for the hyperbolicity computation, explaining this drastic reduction of memory. As iterating over far-apart pairs in decreasing order without storing them explicitly is a very general tool, we believe that our approach might also be relevant to other problems