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At least 1,459 records · Page 81Linked to original sources

A novel transformer model of protein domains for viral taxonomy classification.

MOTIVATION: Viruses with carefully curated taxonomic assignments (such as those in the ICTV taxonomy) still represent only a small fraction of viruses identified through sequencing data from virome or microbiome projects. It is therefore critical to develop methods that can assign viruses at multiple taxonomic ranks, so that a virus deemed novel at a given rank may still be placed into a higher-level taxon. Sequence-similarity-based approaches can classify viruses that share substantial genomic similarity with known viruses (e.g. those belonging to the same species or genus); however, their performance drops significantly when applied to more divergent viruses. Recent deep learning models, such as ViTax, which utilize DNA language models, aim to address these limitations, but their performance also degrades when applied to novel viruses lacking genus-level similarity to known references. Proteins are more conserved than genomic sequences, and the multiple proteins encoded by a virus can be leveraged to reveal evolutionary relationships among viruses. RESULTS: We propose a new tool, D2T (Domain-to-Taxonomy), that leverages recent advances in protein language models to improve viral taxonomic assignment. D2T represents a virus as a sequence of protein domain tokens and learns a transformer-based model for taxonomic classification. Experiments on multiple closed-set and open-set datasets show that D2T excels at assigning higher-level taxonomic labels (family and above). Furthermore, by combining D2T with Kraken2, which performs well at the genus level, the hybrid method (K+D2T) achieves accurate viral taxonomic classification across multiple taxonomic ranks. AVAILABILITY AND IMPLEMENTATION: D2T is available as a GitHub repository at https://github.com/mgtools/D2T.

Viruses↗

microntology: a lightweight, data-driven controlled vocabulary to describe earth's microbial habitats.

MOTIVATION: Data-enabled studies of microbial ecology and evolution depend on high-quality descriptions of microbial habitats, based on curated and consolidated vocabularies. RESULTS: We introduce microntology v1.0, a pragmatic controlled vocabulary of 148 terms to describe microbial habitats and lifestyles, and provide manually curated microntology annotations for >300k metagenomic samples from public repositories. AVAILABILITY: microntology controlled vocabulary terms and term hierarchies (doi: 10.5281/zenodo.19730167), and curated annotations for 305 626 metagenomic samples (doi: 10.5281/zenodo.18164252) are available via Zenodo and spire.embl.de/downloads. Underlying code is available via github.com/grp-schmidt/microntology and Zenodo (doi: 10.5281/zenodo.20323497). User feedback, suggestions and bug reports are welcome at github.com/grp-schmidt/microntology/issues.

Ecosystem↗

Evaluation of epistasis detection methods for quantitative phenotypes.

MOTIVATION: Epistasis, or genetic interaction, plays a crucial role in shaping complex traits and has been increasingly recognized for its widespread influence in genetic architectures. While epistasis detection has been extensively evaluated in case-control studies, its performance with quantitative phenotypes remains comparatively understudied. RESULTS: We identified and evaluated six epistasis detection methods applicable to quantitative trait analysis: EpiSNP, Matrix Epistasis, MIDESP, PLINK Epistasis, QMDR, and REMMA. Using the EpiGEN simulator, we generated synthetic datasets modeling four classes of pairwise SNP interactions-dominant, multiplicative, recessive, and XOR. We also assessed BOOST and MDR algorithms using discretized (case-control) versions of the same datasets. Performance varied notably by interaction type: REMMA achieved the highest overall detection rate (55%), particularly excelling with dominant interactions (100%). MDR excelled with multiplicative (57%) and XOR (69%) interactions. Meanwhile, EpiSNP attained the best performance for recessive interactions (67%). All methods except BOOST produced F1 scores below 0.05 for most interaction types. We further evaluated the methods using a real-world dataset. When applied to the Adolescent Brain Cognitive Development dataset to analyse the externalizing behavior phenotype, both PLINK Epistasis and PLINK BOOST identified SNPs within the DRD2 and DRD4 genes, consistent with previously reported genetic associations. Given the variability in tool performance across interaction types, no single method provides optimal detection across all scenarios. Leveraging multiple detection algorithms may therefore yield more comprehensive insights into epistatic effects in quantitative trait analyses. AVAILABILITY AND IMPLEMENTATION: All relevant code and simulated datasets can be found at github.com/staslist/Epistasis_Review repository.

Epistasis, Genetic↗

Predicting enhancer-promoter interactions using a stacking-based ensemble strategy.

MOTIVATION: Enhancer-promoter interactions (EPIs) are essential for gene regulation and disease progression. Recent studies have shown that distal enhancers can regulate target genes through interactions with nearby promoters, providing important insights into transcriptional regulation mechanisms. Although high-throughput experimental techniques have enabled large-scale identification of EPIs, these methods are often costly and time-consuming. In addition, existing computational approaches still face challenges in effectively integrating heterogeneous feature representations from different cell lines. RESULTS: We propose a stacked ensemble framework for EPI prediction that integrates feature representations from diverse cell line datasets using multiple machine learning algorithms. The extracted complementary patterns are further combined by an XGBoost classifier to improve robustness against overfitting. Experiments on six independent datasets show that the proposed method achieves superior accuracy and generalization compared with existing EPI prediction models, with an average AUROC of 0.909 while maintaining computational efficiency. AVAILABILITY: The source code and its archived release are available at GitHub and Zenodo. The Zenodo archive provides a versioned snapshot of the repository: https://zenodo.org/records/19952998.

Promoter Regions, Genetic↗

VIJB: a companion of the JBROWSE genome browser for the visually impaired people.

MOTIVATION: The availability of touch-sensitive and haptic devices has been a keystone development for the inclusion of visually impaired people (VIPs) in modern, highly digitized work environments. Braille displays have proven efficient and versatile enough to parse large and complex text files, making bioinformatics and text-heavy programming accessible to VIPs. However, the complex graphical objects -combining numerous datasets- typically generated during data integration remain challenging, even with the aid of descriptive AI. This is particularly true in functional genomics. Here, we present VIJB, a simple application that displays the multilayered output of the JBROWSE genome browser on a Braille reader, enabling VIPs to fully participate in data integration in functional genomics. AVAILABILITY AND IMPLEMENTATION: VIJB is programmed in Python and relies on the scientific library NumPy, the braillegraph and pyBigWig libraries, and the TABIX software. The architecture is summarized in Supplementary Material 1, available as supplementary data at Bioinformatics online. VIJB is available for download at the GitHub repository https://GitHub.com/NiBuMNHN/VIJB and is licenced under the GPL 3.0.

Persons with Visual Disabilities↗

A-liner: linear alignment visualizer for genome comparisons.

SUMMARY: A-liner is a flexible command-line tool for linear visualization of genome-scale sequence alignments, supporting outputs from multiple aligners and integrated visualization of annotations, highlights, quantitative tracks, and coordinate scales. It is applicable to a wide range of organisms, from bacteria to large eukaryotic genomes, and facilitates efficient generation of publication-ready comparative genome visualizations. AVAILABILITY AND IMPLEMENTATION: The source code and example output files for a-liner are available in the GitHub repository: https://github.com/mokuno3430/a-liner. A-liner v1.1.0 has been archived on Zenodo at https://doi.org/10.5281/zenodo.19702001.

Software↗

DiaReport: reproducible workflow for differential expression analysis and interactive reporting in DIA-based proteomics.

MOTIVATION: Data-independent acquisition (DIA) has become the preferred data acquisition method for mass spectrometry-based proteomics, yet, reproducible workflows for differential expression (DE) analysis and results reporting remain limited. We present DiaReport, an R package that performs precursor- and protein-level DE analysis from DIA-NN output using MSqRob and QFeatures, while generating high-quality, interactive HTML reports through Quarto. DiaReport integrates precursor data, filtering of missing values, normalization, protein summarization and statistical modeling within a single function, supporting both simple pairwise as well as complex experimental designs. The package provides structured outputs and configuration files to ensure computational reproducibility across different studies. To accommodate diverse research needs, DiaReport includes multiple reporting templates tailored to different proteomic applications. Applying DiaReport to an extracellular vesicle (EV) proteomics dataset demonstrates its ability to efficiently analyze DIA data and provide rapid insights into sample quality and protein level differences. AVAILABILITY: DiaReport is an open-source R package available at https://github.com/Gevaert-Lab/diareport (DOI: 10.5281/zenodo.20120604). The package is platform-independent and distributed under the MIT license. Reports are generated using Quarto and require only standard R dependencies. Detailed documentation, installation guides and usage vignettes are provided within the repository. The interactive HTML reports discussed in this study, including the UPS2 benchmark and EV case study, are archived on Zenodo (10.5281/zenodo.20122506 and 10.5281/zenodo.20123378).

Proteomics↗

Episode clustering in phylogenetic networks.

MOTIVATION: The classical duplication episode clustering (EC) model introduced by Guigó et al. in the 1990s provides a foundational approach for inferring genomic duplication events crucial to understanding genome evolution. This model clusters single gene duplications from a collection of gene trees at locations in the species tree to minimize the total number of such locations, called duplication episodes. However, it does not capture reticulate evolutionary histories. RESULTS: Here, we introduce NetEC, a novel extension of this problem to phylogenetic networks. To solve NetEC, we first develop a polynomial-time dynamic programming (DP) algorithm for testing whether a given set of network nodes can serve as episode locations. We then propose a main inference algorithm that utilizes this DP component to optimize the episode count; while the feasibility test runs in polynomial time, the full optimization has exponential worst-case complexity, and an optional heuristic mode is provided for larger instances. We also propose an extended episode analysis procedure that identifies additional genomic duplication candidates below reticulation nodes, complementing the main algorithm by resolving potential upward clustering of duplications induced by reticulation. We evaluate our method on simulated data and on an empirical Pandanales dataset comprising over 29 000 gene trees, demonstrating exact and accurate inference of genomic duplication events even in the presence of multiple reticulations. AVAILABILITY AND IMPLEMENTATION: All experiments were conducted using the NetEC tool (https://github.com/ppgorecki/netec), with all input data, scripts, and parameter settings for reproduction available in the same repository.

Phylogeny↗

An end-to-end computational framework for "Record-seq" transcriptional recording data.

MOTIVATION: Record-seq captures cumulative transcriptional activity over time in engineered Escherichia coli by integrating cellular RNA-derived spacer sequences into clustered regularly interspaced short palindromic repeats (CRISPR) arrays, which are read out by sequencing. Unlike the approximately uniform transcript sampling of RNA-seq, Record-seq records biological signal as spacers sampled by the CRISPR spacer acquisition machinery. Consequently, standard RNA-seq analysis strategies are not directly applicable, limiting sensitivity and interpretability. Our previous pipeline addressed these challenges only partially, retained inherited RNA-seq assumptions, and had limited algorithmic efficiency. RESULTS: Here, we present an end-to-end computational framework for Record-seq data. To address the primary computational bottleneck of spacer sequence extraction, we implemented a wavefront alignment approach for efficient quasi-local pattern matching, achieving an approximately 30-fold speedup. We introduce transcription unit-based feature counting as an alternative to gene-body quantification to better represent prokaryotic transcription and increase statistical power by capturing signal from untranslated regions, which are spacer acquisition hotspots. For downstream analyses, we incorporate multiple normalization strategies and a nonparametric differential expression testing framework designed for sparse datasets. Further, we analyze spacer acquisition patterns and train sequence-based neural models that predict acquisition propensity from genomic sequence and annotations, providing a framework for assessing whether acquisition rules generalize as Record-seq is extended to new microbial hosts. AVAILABILITY AND IMPLEMENTATION: The primary analysis workflow, the recoRdseq package, acquisition modeling repository, and relevant data are all linked at https://github.com/plattlab/Record-seq-Framework. Acquisition models and training data are on Zenodo at https://doi.org/10.5281/zenodo.18891434.

Escherichia coli↗

usiGrabber: automating the curation of proteomics spectra data at scale, making large datasets ready for use in machine learning systems.

MOTIVATION: An unprecedented amount of mass spectrometry-based proteomics data is publicly available through repositories such as the PRoteomics IDEntifications Database (PRIDE), and the field is increasingly leveraging machine-learning approaches. However, the available data is not ready to be reused in a scalable way beyond the original acquisition purpose. Existing machine learning models commonly rely on a few manually curated datasets that require deep domain expertise and tedious technical work to construct. Importantly, these datasets have not been updated in recent years, so that newly published data remains inaccessible. We present usiGrabber, a scalable framework for assembling large proteomic datasets. usiGrabber is designed around portability and extensibility. It extracts spectra identification data from mzIdentML files, stores additional project-level metadata retrieved through the PRIDE API, indexes raw spectra using Universal Spectrum Identifiers (USIs), and offers download utilities to retrieve spectra data at scale. RESULTS: Within 49 h, we parsed over 800 million peptide spectrum matches and corresponding USIs from over 1200 projects. As a proof of concept, we used usiGrabber to construct a phosphorylation-specific training dataset of nearly 11 million spectra in under 2 days and used it to retrain a binary phosphorylation classifier based on the AHLF model architecture. With a balanced accuracy of 0.78, our model achieves comparable performance to the original model on an independent test set, showing that automated data extraction is an alternative to manual curation of static datasets. AVAILABILITY AND IMPLEMENTATION: All code is available at https://github.com/usiGrabber/usiGrabber; the data are available at https://zenodo.org/records/18853258.

Machine Learning↗

nf-core/magmap: Map metatranscriptomes to large collections of genomes.

SUMMARY: The lack of publicly available reference genomes has forced annotation of metatranscriptomes to either use direct alignment of sequence reads to reference databases or de novo assembly. As more and more natural environments are covered by metagenomic surveys, this is rapidly changing. This opens up the possibility of genome-resolved studies of prokaryotic metatranscriptomes by mapping to genomes from public repositories or metagenome-assembled genomes derived from the same environment. Here, we present the nf-core/magmap pipeline that provides a reproducible, easy-to-access, and well-documented workflow for selecting reference genomes, mapping to them, and quantifying features. Genomes can be drawn from public sources or originate from private collections. The pipeline is primarily aimed at prokaryotic communities but can, together with collections of reference mature gene sequences, also be applied to eukaryotes. AVAILABILITY AND IMPLEMENTATION: The nf-core/magmap pipeline is implemented in Nextflow and part of the nf-core collaboration. The pipeline is available at the nf-core website (https://nf-co.re/magmap) and GitHub (https://github.com/nf-core/magmap).

Software↗

PathMED: an R toolkit for single-sample molecular scoring and machine learning with omics data.

MOTIVATION: Molecular scoring is a popular approach for studying pathway-level functional alterations with omics data. Using molecular scores for tasks such as single-sample molecular characterisation, phenotype prediction or disease stratification has several advantages compared to using omics data directly. Molecular scores provide biological interpretability and are more generalisable across datasets, facilitating data integration and machine learning applications. However, numerous scoring methods are available through different software packages, and currently there is a lack of tools to easily use these scores for model training and prediction. RESULTS: We developed pathMED, an R/Bioconductor package that unifies various scoring methods in a simple framework. Furthermore, pathMED also contains a machine learning module to train and test models that use the calculated molecular scores to predict clinical outcomes. We demonstrate some of its potential applications in three use cases using public omics data. We showed the generalisability of machine learning models trained on transcriptomic scores in predicting clinical outcomes when deploying on proteomic scores. We also demonstrated the application of transcriptomics scores in predicting breast cancer treatment response and identifying pathways strongly associated to tumour biology and treatment response. Finally, we demonstrated the benefit of integrating a novel gene set dissection step into the analysis pipeline to resolve disease heterogeneity at the pathway level. AVAILABILITY: PathMED is freely available in the Bioconductor repository (https://bioconductor.org/packages/release/bioc/html/pathMED.html). Code to reproduce the analyses is publicly available at https://github.com/GENyO-BioInformatics/pathMED_article.

Software↗

A de novo algorithm for allele reconstruction from Oxford nanopore amplicon reads, with application to CYP2D6.

MOTIVATION: The Oxford Nanopore Technologies' sequencing platform offers a path towards bedside genomics, producing long reads that can completely cover a gene of interest, and detect any known or novel variant the gene contains. However, the analysis of these long reads to identify actionable genotypes remains challenging and typically requires customization depending on the target gene. RESULTS: Here, we describe a generic algorithm to accurately reconstruct allele sequences derived from long-reads of amplicon-based data. Rather than calling variants directly from these long-reads, our method takes a "sequence-first" approach, performing an unbiased reconstruction of the underlying amplicon sequences to generate high-confidence reconstructed allele sequences. This is done without user input of the target gene, allowing for any source amplicon to be reconstructed. These high-confidence reconstructed allele sequences are then compared to the genomic reference sequence of the gene to infer the specific diplotype present in the sample. This approach is agnostic towards the number of genes and alleles present and readily detects novel variants. We demonstrate our approach using three independent data sets for CYP2D6, a diverse and complex gene with over 175 known alleles of clinical significance. We show how our approach can accurately recover validated CYP2D6 diplotypes from 20 Coriell samples covering 14 distinct alleles, using different amplicons, flow cell versions, and depths. This includes inferring occurrences of allele duplication events from relative abundances of each allele, a critical factor for ascribing functional effects to a diplotype. Further, we demonstrate our approach's utility for other genomic regions, including HLA. AVAILABILITY: Custom code is available at the following GitHub repository, along with instructions for use and test data: https://github.com/scottdbrown/allele-reconstruction-long-read-amplicon-data. A snapshot of the code at the time of publication is available on Zenodo.org; doi 10.5281/zenodo.19716004. Raw .fastq sequence data for our three sequencing runs is available at the SRA under Bioproject PRJNA1357883 (https://www.ncbi.nlm.nih.gov/bioproject/1357883).

Alleles↗

hypeR-GEM: connecting metabolite signatures to enzyme-coding genes via genome-scale metabolic models.

MOTIVATION: Enrichment analysis is a cornerstone of "omics" data interpretation, enabling researchers to connect analysis results to biological processes and generate testable hypotheses. Enrichment analysis in metabolomics poses distinct challenges for interpretation and multi-omics integration due to the lack of well-defined and consistent connections to well-curated gene-centered biological knowledge repositories. To address these challenges, we developed hypeR-GEM, a methodology and associated R package that adapts gene set enrichment analysis to metabolomics. hypeR-GEM leverages genome-scale metabolic models (GEMs) to infer reaction-based links between metabolites and enzyme-coding genes, enabling the mapping of metabolite signatures to gene signatures and their subsequent annotation via gene set enrichment analysis. RESULTS: We validated hypeR-GEM using paired metabolomics-proteomics and metabolomics-transcriptomics datasets by assessing whether genes mapped from metabolites significantly overlapped with differentially expressed proteins or transcripts. We further evaluated whether pathways enriched via hypeR-GEM-mapped genes corresponded to those derived from paired proteomic or transcriptomic data. In most datasets analyzed, both the predicted enzyme-coding genes and the associated enriched pathways showed significant concordance with independently derived omics signatures, supporting the utility and robustness of hypeR-GEM. Finally, we applied hypeR-GEM to the analysis of age-associated metabolic signatures from the New England Centenarian Study. The results revealed consistent enrichment of lipid-related pathways, aligning with the well-established role of lipid metabolism in aging, and highlighted additional pathways not captured in the metabolites' annotation, demonstrating hypeR-GEM's practical utility in a real-world use case. AVAILABILITY AND IMPLEMENTATION: The hypeR-GEM R package, documentation, and workflow examples are freely available at https://github.com/montilab/hypeR-GEM and archived at https://doi.org/10.5281/zenodo.20586748.

Metabolomics↗

CoSAG-nf: A Scalable Nextflow Pipeline for Co-assembly, Optimization, and Interactive Visualization of High-Throughput Single-Cell Genomes.

MOTIVATION: Single-cell amplified genomes (SAGs) are crucial for resolving intra-population microbial heterogeneity and accurately understanding the metabolic potential of microbial dark matter populations. However, SAGs generated through multiple displacement amplification (MDA) of genomic DNA from single cells with single-copy chromosomes are highly fragmented and prone to contamination, severely hindering high-quality genome reconstruction and functional analysis, which greatly limits their scientific utility. Co-assembly of related SAGs can substantially improve genome quality, but to our knowledge no automated pipeline exists for high-throughput processing, forcing manual implementation of complex workflows that scale poorly to modern dataset sizes. RESULTS: We present CoSAG-nf, an automated high-throughput co-assembly and optimization pipeline for SAGs, implemented following the nf-core framework standards. The pipeline performs alignment-free clustering using sourmash MinHash signatures, then employs iterative tetranucleotide frequency profiling to identify and exclude outlier SAGs from co-assembly groups. CheckM2 quality assessment guides dynamic selection of optimal SAG combinations to optimize genome completeness and minimize contamination. Fully containerized, CoSAG-nf ensures reproducibility and scalability for the high-throughput processing of large-scale SAG datasets across diverse computing environments, including HPC and cloud platforms. The pipeline generates comprehensive HTML reports with quality metrics and taxonomic annotations, providing an end-to-end solution for automated high-throughput single-cell genome reconstruction. AVAILABILITY: CoSAG-nf is freely available under the MIT License at: https://github.com/linfengxu/CoSAG-nf. Archival code repository snapshots are published at zenodo with doi: https://doi.org/10.5281/zenodo.21525244. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Journal Article↗

The Database of Quantitative Cellular Signaling: management and analysis of chemical kinetic models of signaling networks.

MOTIVATION: Analysis of cellular signaling interactions is expected to pose an enormous informatics challenge, perhaps even larger than analyzing the genome. The complex networks arising from signaling processes are traditionally represented as block diagrams. A key step in the evolution toward a more quantitative understanding of signaling is to explicitly specify the kinetics of all chemical reaction steps in a pathway. Technical advances in proteomics and high-throughput protein interaction assays promise a flood of such quantitative data. While annotations, molecular information and pathway connectivity have been compiled in several databases, and there are several proposals for general cell model description languages, there is currently little experience with databases of chemical kinetics and reaction level models of signaling networks. RESULTS: The Database of Quantitative Cellular Signaling is a repository of models of signaling pathways. It is intended both to serve the growing field of chemical-reaction level simulation of signaling networks, and to anticipate issues in large-scale data management for signaling chemistry. AVAILABILITY: The Database of Quantitative Cellular Signaling is available at http://doqcs.ncbs.res.in. Links to the signaling model simulator, GENESIS/Kinetikit are at http://www.ncbs.res.in/~bhalla/kkit/index.html and are also provided from within the database. The database source code is available under the GNU Public License.

Abstracting and Indexing↗

BioEditor-simplifying macromolecular structure annotation.

SUMMARY: BioEditor is an application to enable scientists and educators to prepare and present structure annotations containing formatted text, graphics, sequence data, and interactive molecular views. It is intended to bridge the gap between printed journal articles and Internet presentation formats. BioEditor is relevant in the era of structural genomics, where annotation and publication could become the rate determining step in structure determination. AVAILABILITY: BioEditor is available at http://bioeditor.sdsc.edu. The Web site includes the latest version of the software for Microsoft Windows, including documentation, the opportunity to submit bug reports and suggestions, example documentaries prepared with BioEditor and a repository where users can submit documentaries for posting to the site.

Biopolymers↗

Evaluation of text data mining for database curation: lessons learned from the KDD Challenge Cup.

MOTIVATION: The biological literature is a major repository of knowledge. Many biological databases draw much of their content from a careful curation of this literature. However, as the volume of literature increases, the burden of curation increases. Text mining may provide useful tools to assist in the curation process. To date, the lack of standards has made it impossible to determine whether text mining techniques are sufficiently mature to be useful. RESULTS: We report on a Challenge Evaluation task that we created for the Knowledge Discovery and Data Mining (KDD) Challenge Cup. We provided a training corpus of 862 articles consisting of journal articles curated in FlyBase, along with the associated lists of genes and gene products, as well as the relevant data fields from FlyBase. For the test, we provided a corpus of 213 new ('blind') articles; the 18 participating groups provided systems that flagged articles for curation, based on whether the article contained experimental evidence for gene expression products. We report on the evaluation results and describe the techniques used by the top performing groups.

Abstracting and Indexing↗