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Pangenome variation graphs (PVGs) allow for the representation of genetic diversity in a more nuanced way than traditional reference-based approaches. Here we focus on how PVGs are a powerful tool for studying genetic variation in viruses,…

Genomics · Quantitative Biology 2025-06-18 Tim Downing

Motivation: The gene content regulates the biology of an organism. It varies between species and between individuals of the same species. Although tools have been developed to identify gene content changes in bacterial genomes, none is…

Genomics · Quantitative Biology 2024-05-30 Heng Li , Maximillian Marin , Maha Reda Farhat

The recent advances in sequencing technologies enables the assembly of individual genomes to the reference quality. How to integrate multiple genomes from the same species and to make the integrated representation accessible to biologists…

Genomics · Quantitative Biology 2020-03-16 Heng Li , Xiaowen Feng , Chong Chu

Affordable, high-quality whole-genome assemblies have made it possible to construct rich pangenomes that capture haplotype diversity across many species. As these datasets grow, they motivate the development of specialized techniques…

Genomics · Quantitative Biology 2025-12-19 Gorkem Kadir Solun , Ugur Dogrusoz

Computational Pangenomics is an emerging field that studies genetic variation using a graph structure encompassing multiple genomes. Visualizing pangenome graphs is vital for understanding genome diversity. Yet, handling large graphs can be…

Distributed, Parallel, and Cluster Computing · Computer Science 2026-05-29 Jiajie Li , Jan-Niklas Schmelzle , Yixiao Du , Simon Heumos , Andrea Guarracino , Giulia Guidi , Pjotr Prins , Erik Garrison , Zhiru Zhang

Pangenomes serve as a framework for joint analysis of genomes of related organisms. Several pangenome models were proposed, offering different functionalities, applications provided by available tools, their efficiency etc. Among them, two…

Genomics · Quantitative Biology 2025-03-20 Adam Cicherski , Norbert Dojer

Sequence differences between the strains of bacteria comprising host-associated and environmental microbiota may play a role in community assembly and influence the resilience of microbial communities to disturbances. Tools for…

The integration of knowledge graphs and graph machine learning (GML) in genomic data analysis offers several opportunities for understanding complex genetic relationships, especially at the RNA level. We present a comprehensive approach for…

Artificial Intelligence · Computer Science 2024-08-06 Shivika Prasanna , Ajay Kumar , Deepthi Rao , Eduardo Simoes , Praveen Rao

De novo genome assembly is challenging in highly repetitive regions; however, reference-guided assemblers often suffer from bias. We propose a framework for pangenome-guided sequence assembly, which can resolve short-read data in complex…

Quantum Physics · Physics 2026-02-11 Josh Cudby , James Bonfield , Chenxi Zhou , Richard Durbin , Sergii Strelchuk

PanGeneHome is a web server dedicated to the analysis of available microbial pangenomes. For any prokaryotic taxon with at least three sequenced genomes, PanGeneHome provides (i) conservation level of genes, (ii) pangenome and core-genome…

Variation graphs, which represent genetic variation within a population, are replacing sequences as reference genomes. Path indexes are one of the most important tools for working with variation graphs. They generalize text indexes to…

Data Structures and Algorithms · Computer Science 2017-01-13 Jouni Sirén

Motivation: Bacteriophages (aka phages), which mainly infect bacteria, play key roles in the biology of microbes. As the most abundant biological entities on the planet, the number of discovered phages is only the tip of the iceberg.…

Genomics · Quantitative Biology 2021-09-07 Jiayu Shang , Jingzhe Jiang , Yanni Sun

Pangenomics uses graph-based models to represent and study the genetic variation between individuals of the same species or between different species. In such variation graphs, a path through the graph represents one individual genome.…

Data Structures and Algorithms · Computer Science 2026-03-05 Athanasios E. Zisis , Pål Sætrom

Disease-gene prediction (DGP) refers to the computational challenge of predicting associations between genes and diseases. Effective solutions to the DGP problem have the potential to accelerate the therapeutic development pipeline at early…

Machine Learning · Computer Science 2019-07-15 Vikash Singh , Pietro Lio'

In the genomic era, the identification of gene signatures associated with disease is of significant interest. Such signatures are often used to predict clinical outcomes in new patients and aid clinical decision-making. However, recent…

Methodology · Statistics 2019-03-27 Naim U. Rashid , Quefeng Li , Jen Jen Yeh , Joseph G. Ibrahim

The human gut microbiome is associated with a large number of disease etiologies. As such, it is a natural candidate for machine learning based biomarker development for multiple diseases and conditions. The microbiome is often analyzed…

Quantitative Methods · Quantitative Biology 2022-05-16 Shtossel Oshrit , Isakov Haim , Turjeman Sondra , Koren Omry , Louzoun Yoram

Genomic signal processing has been used successfully in bioinformatics to analyze biomolecular sequences and gain varied insights into DNA structure, gene organization, protein binding, sequence evolution, etc. But challenges remain in…

Genomics · Quantitative Biology 2022-11-04 Saish Jaiswal , Shreya Nema , Hema A Murthy , Manikandan Narayanan

Probabilistic graphical models (PGMs) have become a popular tool for computational analysis of biological data in a variety of domains. But, what exactly are they and how do they work? How can we use PGMs to discover patterns that are…

Quantitative Methods · Quantitative Biology 2010-02-22 Edoardo M Airoldi

Identifying genes associated with complex human diseases is one of the main challenges of human genetics and computational medicine. To answer this question, millions of genetic variants get screened to identify a few of importance. To…

Genomics · Quantitative Biology 2015-09-01 Aziz M. Mezlini , Fabio Fuligni , Adam Shlien , Anna Goldenberg

Predicting genetic perturbations enables the identification of potentially crucial genes prior to wet-lab experiments, significantly improving overall experimental efficiency. Since genes are the foundation of cellular life, building gene…

Quantitative Methods · Quantitative Biology 2025-05-09 Changxi Chi , Jun Xia , Jingbo Zhou , Jiabei Cheng , Chang Yu , Stan Z. Li
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