Search bioRxiv⌕ Search

Biology subjects

Arasti, S.

Publications and source records attributed to Arasti, S..

3 recordsLinked to original sources

Species tree branch length estimation despite incomplete lineage sorting, duplication, and loss

Phylogenetic branch lengths are essential for many analyses, such as estimating divergence times, analyzing rate changes, and studying adaptation. However, true gene tree heterogeneity due to incomplete lineage sorting (ILS), gene duplication and loss (GDL), and horizontal gene transfer (HGT) can complicate the estimation of species tree branch lengths. While several tools exist for estimating the topology of a species tree addressing various causes of gene tree discordance, much less attention has been paid to branch length estimation on multi-locus datasets. For single-copy gene trees, some methods are available that summarize gene tree branch lengths onto a species tree, including coalescent-based methods that account for heterogeneity due to ILS. However, no such branch length estimation method exists for multi-copy gene family trees that have evolved with gene duplication and loss. To address this gap, we introduce the CASTLES-Pro algorithm for estimating species tree branch lengths while accounting for both GDL and ILS. CASTLES-Pro improves on the existing coalescent-based branch length estimation method CASTLES by increasing its accuracy for single-copy gene trees and extends it to handle multi-copy ones. Our simulation studies show that CASTLES-Pro is generally more accurate than alternatives, eliminating the systematic bias toward overestimating terminal branch lengths often observed when using concatenation. Moreover, while not theoretically designed for HGT, we show that CASTLES-Pro maintains relatively high accuracy under high rates of random HGT. Code availabilityCASTLES-Pro is implemented inside the software package ASTER, available at https://github.com/chaoszhang/ASTER. Data availabilityThe datasets and scripts used in this study are available at https://github.com/ytabatabaee/CASTLES-Pro-paper.

evolutionary biology↗

Detecting interspecific positive selection using convolutional neural networks

Traditional statistical methods using maximum likelihood and Bayesian inference can detect positive selection from an interspecific phylogeny and a codon sequence alignment based on model assumptions, but they are prone to false positives due to alignment errors and can lack power. These problems are particularly pronounced when faced with high levels of indels and divergence. Leveraging the feature-detection capabilities of convolutional neural networks (CNNs), we achieve higher accuracy in detecting selection across a specific range of phylogenetic scenarios and evolutionary modes. This advantage is particularly evident with noisy data prone to misalignments. Our method shows some ability to account for these errors, where most statistical frameworks fail to do so in a tractable manner. We explore generalisability and identify future avenues to achieve broader utility. Once trained, our CNN model is faster at test time, making it a scalable alternative to traditional statistical methods for large-scale, multi-gene analyses. In addition to binary classification (inference of the presence or absence of positive selection during the evolution of the sequences), we use saliency maps to understand what the model learns and observe how this could be leveraged for sitewise inference of positive selection.

evolutionary biology↗

Optimal Tree Metric Matching Enables Phylogenomic Branch Length Reconciliation

The abundant discordance between evolutionary relationships across the genome has rekindled interest in methods for comparing and averaging trees on a shared leaf set. However, compared to tree topology, where much progress has been made, handling branch lengths has been more challenging. Species tree branch lengths can be measured in various units, often different from gene trees. Moreover, rates of evolution change across the genome, the species tree, and specific branches of gene trees. These factors compound the stochasticity of coalescence times and estimation noise, making branch lengths highly heterogeneous across the genome. For many downstream applications in phylogenomic analyses, branch lengths are as important as the topology, and yet, existing tools to compare and combine weighted trees are limited. In this paper, we address the question of matching one tree to another, accounting for their branch lengths. We define a series of computational problems called Topology-Constrained Metric Matching (TCMM) that seek to transform the branch lengths of a query tree based on a reference tree. We show that TCMM problems can be solved efficiently using a linear algebraic formulation coupled with dynamic programming preprocessing. While many applications can be imagined for this framework, we explore two applications in this paper: embedding leaves of gene trees in Euclidean space to find outliers potentially indicative of errors, and summarizing gene tree branch lengths onto the species tree. In these applications, our method, when paired with existing methods, increases their accuracy at limited computational expense.

bioinformatics↗