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We develop statistically based methods to detect single nucleotide DNA mutations in next generation sequencing data. Sequencing generates counts of the number of times each base was observed at hundreds of thousands to billions of genome…

Applications · Statistics 2012-10-01 Omkar Muralidharan , Georges Natsoulis , John Bell , Hanlee Ji , Nancy R. Zhang

Understanding the dynamics of genome rearrangements is a major issue of phylogenetics. Phylogenetics is the study of species evolution. A major goal of the field is to establish evolutionary relationships within groups of species, in order…

Data Structures and Algorithms · Computer Science 2014-10-22 Antoine Thomas

Genetic stability is a key factor in maintaining, survival and reproduction of biological cells. It relies on many processes, but one of the most important is a {\it homologous recombination}, in which the repair of breaks in…

Subcellular Processes · Quantitative Biology 2017-04-05 M. P. Kochugaeva , A. A. Shvets , A. B. Kolomeisky

When estimating a phylogeny from a multiple sequence alignment, researchers often assume the absence of recombination. However, if recombination is present, then tree estimation and all downstream analyses will be impacted, because…

Predicting protein-protein interactions from sequences is an important goal of computational biology. Various sources of information can be used to this end. Starting from the sequences of two interacting protein families, one can use…

Biomolecules · Quantitative Biology 2023-04-26 Carlos A. Gandarilla-Perez , Sergio Pinilla , Anne-Florence Bitbol , Martin Weigt

Variation in the evolutionary process across the sites of nucleotide sequence alignments is well established, and is an increasingly pervasive feature of datasets composed of gene regions sampled from multiple loci and/or different genomes.…

Populations and Evolution · Quantitative Biology 2014-09-04 Brian R. Moore , Jim McGuire , Fredrik Ronquist , John P. Huelsenbeck

As researchers collect increasingly large molecular data sets to reconstruct the Tree of Life, the heterogeneity of signals in the genomes of diverse organisms poses challenges for traditional phylogenetic analysis. A class of phylogenetic…

Populations and Evolution · Quantitative Biology 2015-09-11 Liang Liu , Zhenxiang Xi , Shaoyuan Wu , Charles Davis , Scott V. Edwards

Recently, much attention has been given to understanding recombination events along a chromosome in a variety of field. For instance, many population genetics problems are limited by the inaccuracy of inferred evolutionary histories of…

Quantitative Methods · Quantitative Biology 2017-10-31 Jacqueline Kane , Joseph Rusinko , Katherine Thompson

Genetic information is encoded in a linear sequence of nucleotides, represented by letters ranging from thousands to billions. Mutations refer to changes in the DNA or RNA nucleotide sequence. Thus, mutation detection is vital in all areas…

Molecular phylogeny has focused mainly on improving models for the reconstruction of gene trees based on sequence alignments. Yet, most phylogeneticists seek to reveal the history of species. Although the histories of genes and species are…

Populations and Evolution · Quantitative Biology 2013-11-05 Gergely J. Szöllosi , Eric Tannier , Vincent Daubin , Bastien Boussau

Computational methods for discovering patterns of local correlations in sequences are important in computational biology. Here we show how to determine the optimal partitioning of aligned sequences into non-overlapping segments such that…

Computational Engineering, Finance, and Science · Computer Science 2012-06-26 Joseph Bockhorst , Nebojsa Jojic

High-dimensional biomarkers such as genomics are increasingly being measured in randomized clinical trials. Consequently, there is a growing interest in developing methods that improve the power to detect biomarker-treatment interactions.…

Methodology · Statistics 2021-04-30 Jixiong Wang , Ashish Patel , James M. S. Wason , Paul J. Newcombe

Gene finding is the task of identifying the locations of coding sequences within the vast amount of genetic code contained in the genome. With an ever increasing quantity of raw genome sequences, gene finding is an important avenue towards…

Genomics · Quantitative Biology 2025-05-07 Frederikke I. Marin , Dennis Pultz , Wouter Boomsma

Since the advent of modern bioinformatics, the challenging, multifaceted problem of reconstructing phylogenetic history from biological sequences has hatched perennial statistical and algorithmic innovation. Studies of the phylogenetic…

Data Structures and Algorithms · Computer Science 2024-03-05 Matthew Andres Moreno , Santiago Rodriguez Papa , Emily Dolson

Repetitive elements are important in genomic structures, functions and regulations, yet effective methods in precisely identifying repetitive elements in DNA sequences are not fully accessible, and the relationship between repetitive…

Genomics · Quantitative Biology 2016-08-03 Changchuan Yin

Metagenomics provides a powerful new tool set for investigating evolutionary interactions with the environment. However, an absence of model-based statistical methods means that researchers are often not able to make full use of this…

Quantitative Methods · Quantitative Biology 2013-06-27 John O'Brien , Xavier Didelot , Zamin Iqbal , LucasAmenga-Etego , Bartu Ahiska , Daniel Falush

In evolutionary biology, the speciation history of living organisms is represented graphically by a phylogeny, that is, a rooted tree whose leaves correspond to current species and branchings indicate past speciation events. Phylogenies are…

Populations and Evolution · Quantitative Biology 2019-08-02 Wai-Tong Louis Fan , Sebastien Roch

Sequencing by synthesis is used in many next-generation DNA sequencing technologies. Some of the technologies, especially those exploring the principle of single-molecule sequencing, allow incomplete nucleotide incorporation in each cycle.…

Genomics · Quantitative Biology 2024-05-28 Yong Kong

The ability to quickly and accurately identify microbial species in a sample, known as metagenomic profiling, is critical across various fields, from healthcare to environmental science. This paper introduces a novel method to profile…

Genomics · Quantitative Biology 2025-04-10 Riselda Kodra , Hadjer Benmeziane , Irem Boybat , William Andrew Simon

Clusters of genes that have evolved by repeated segmental duplication present difficult challenges throughout genomic analysis, from sequence assembly to functional analysis. Improved understanding of these clusters is of utmost importance,…

Machine Learning · Computer Science 2010-01-25 Tomáš Vinař , Broňa Brejová , Giltae Song , Adam Siepel
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