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Background: Representing biological networks as graphs is a powerful approach to reveal underlying patterns, signatures, and critical components from high-throughput biomolecular data. However, graphs do not natively capture the multi-way…

Modern genomic analyses increasingly rely on pangenomes, that is, representations of the genome of entire populations. The simplest representation of a pangenome is a set of individual genome sequences. Compared to e.g. sequence graphs,…

Genomics · Quantitative Biology 2025-11-25 Jannik Olbrich , Enno Ohlebusch

In biological experiments researchers often have information in the form of a graph that supplements observed numerical data. Incorporating the knowledge contained in these graphs into an analysis of the numerical data is an important and…

Applications · Statistics 2012-02-28 Elizabeth Purdom

Genetic mutations can cause disease by disrupting normal gene function. Identifying the disease-causing mutations from millions of genetic variants within an individual patient is a challenging problem. Computational methods which can…

Machine Learning · Computer Science 2021-06-28 Jun Cheng , Carolin Lawrence , Mathias Niepert

Integrative network modeling of data arising from multiple genomic platforms provides insight into the holistic picture of the interactive system, as well as the flow of information across many disease domains including cancer. The basic…

Methodology · Statistics 2020-02-18 Min Jin Ha , Francesco Stingo , Veerabhadran Baladandayuthapani

Accurate variant descriptions are of paramount importance in the field of genomics. The domain is confronted with increasingly complex variants, e.g., combinations of multiple indels, making it challenging to generate proper variant…

Genomics · Quantitative Biology 2025-12-10 Mark A. Santcroos , Walter A. Kosters , Mihai Lefter , Jeroen F. J. Laros , Jonathan K. Vis

The effective visualization of genomic data is crucial for exploring and interpreting complex relationships within and across genes and genomes. Despite advances in developing dedicated bioinformatics software, common visualization tools…

Genomics · Quantitative Biology 2024-11-22 Thomas Hackl , Markus Ankenbrand , Bart van Adrichem , David Wilkins , Kristina Haslinger

Microbes have a profound impact on our health and environment, but our understanding of the diversity and function of microbial communities is severely limited. Through DNA sequencing of microbial communities (metagenomics), DNA fragments…

Genomics · Quantitative Biology 2022-04-27 Andre Lamurias , Alessandro Tibo , Katja Hose , Mads Albertsen , Thomas Dyhre Nielsen

The variation graph toolkit (VG) represents genetic variation as a graph. Each path in the graph is a potential haplotype, though most paths are unlikely recombinations of true haplotypes. We augment the VG model with haplotype information…

Data Structures and Algorithms · Computer Science 2018-06-18 Jouni Sirén , Erik Garrison , Adam M. Novak , Benedict Paten , Richard Durbin

Metagenome, a mixture of different genomes (as a rule, bacterial), represents a pattern, and the analysis of its composition is, currently, one of the challenging problems of bioinformatics. In the present study, the possibility of…

Quantitative Methods · Quantitative Biology 2016-11-04 Valery Kirzhner , Zeev Volkovich , Renata Avros , Katerina Korenblat

The gut microbiome, crucial for human health, presents challenges in analyzing its complex metaomic data due to high dimensionality and sparsity. Traditional methods struggle to capture its intricate relationships. We investigate graph…

Machine Learning · Computer Science 2025-06-24 Christopher Irwin , Flavio Mignone , Stefania Montani , Luigi Portinale

A recent paradigm shift in bioinformatics from a single reference genome to a pangenome brought with it several graph structures. These graph structures must implement operations, such as efficient construction from multiple genomes and…

Data Structures and Algorithms · Computer Science 2023-06-27 Andrej Baláž , Alessia Petescia

Single-cell RNA sequencing (scRNA-seq) technology provides high-throughput gene expression data to study the cellular heterogeneity and dynamics of complex organisms. Graph neural networks (GNNs) have been widely used for automatic cell…

Machine Learning · Computer Science 2023-12-19 Rui Yang , Wenrui Dai , Chenglin Li , Junni Zou , Dapeng Wu , Hongkai Xiong

Multi-omics data offer unprecedented insights into complex biological systems, yet their high dimensionality, sparsity, and intricate interactions pose significant analytical challenges. Network-based approaches have advanced multi-omics…

Graphical models are ubiquitous tools to describe the interdependence between variables measured simultaneously such as large-scale gene or protein expression data. Gaussian graphical models (GGMs) are well-established tools for…

Methodology · Statistics 2020-01-09 Nilabja Guha , Veera Baladandayuthapani , Bani K. Mallick

This paper develops a Bayesian graphical model for fusing disparate types of count data. The motivating application is the study of bacterial communities from diverse high dimensional features, in this case transcripts, collected from…

With the astonishing rate that the genomic and metagenomic sequence data sets are accumulating, there are many reasons to constrain the data analyses. One approach to such constrained analyses is to focus on select subsets of gene families…

Genomics · Quantitative Biology 2014-03-05 Dongying Wu , Guillaume Jospin , Jonathan A. Eisen

Graph-based machine learning methods are useful tools in the identification and prediction of variation in genetic data. In particular, the comprehension of phenotypic effects at the cellular level is an accelerating research area in…

Quantitative Methods · Quantitative Biology 2024-12-06 Nandini Gadhia , Michalis Smyrnakis , Po-Yu Liu , Damer Blake , Melanie Hay , Anh Nguyen , Dominic Richards , Dong Xia , Ritesh Krishna

Inferring genetic networks from gene expression data is one of the most challenging work in the post-genomic era, partly due to the vast space of possible networks and the relatively small amount of data available. In this field, Gaussian…

Methodology · Statistics 2011-05-18 Marine Jeanmougin , Mickael Guedj , Christophe Ambroise

Graph classification is essential for understanding complex biological systems, where molecular structures and interactions are naturally represented as graphs. Traditional graph neural networks (GNNs) perform well on static tasks but…

Machine Learning · Computer Science 2025-10-29 Ding Zhang , Jane Downer , Can Chen , Ren Wang