2025 Hyper Recent •CC0 1.0 Universal

This work is dedicated to the public domain. No rights reserved.

Access Preprint From Server
July 2nd, 2025
Version: 1
Government College University Faisalabad
bioinformatics
biorxiv

XtractPAV: An Automated Pipeline for Identifying Presence-Absence Variations Across Multiple Genomes

Ahmad, R. S.Open in Google Scholar•Sadaqat, M.Open in Google Scholar•Tahir ul Qamar, M.Open in Google Scholar

Motivation: Presence-absence variations (PAVs) significantly influence phenotypic diversity across and within species by modulating functional modules involved in stress responsiveness, adaptation, and developmental processes. This modulation ultimately contributes to genetic diversity at both inter- and intra-species levels. However, existing tools for detecting PAVs offer limitations in achieving optimal analysis because they lack scalable workflows for multi-genome comparisons and frequently necessitate manual integration. To address these challenges, we developed XtractPAV, an end-to-end pipeline that automates the extraction, annotation, and interactive visualization of PAVs across large-scale genomic datasets. Results: XtractPAV was evaluated using assembled genomes of both eukaryotic and prokaryotic organisms, including Pyrus communis, Arabidopsis thaliana, Mus musculus, and Salmonella enterica, to assess its ability to detect the genomic variations across diverse species. The performance of XtractPAV was benchmarked against other established pipelines, demonstrating superior precision and a more comprehensive extraction of PAV segments. Notably, our pipeline not only identified the known PAVs from the reference set but also revealed novel variations in genes associated with various functions such as flowering time regulation and disease resistance. Furthermore, the automated report generation feature of XtractPAV produces publication-ready summaries of PAV distributions and related metrics. Availability: XtractPAV is freely accessible at https://github.com/SherazAhmadd/XtractPAV and on the XtractPAV webpage. The Package includes all requisite files, a user manual, test data, and a license permitting non-commercial use.

Similar Papers

biorxiv
Thu Jul 03 2025
Amino acid exchangeability and surface accessibility underpin the effects of single substitutions
Deep mutational scans have measured the effects of many mutations on many different proteins. Here we use a collection of such scans to perform a statistical meta-analysis of the effects of single amino acid substitutions. Specifically, we model the relative deleteriousness of each substitution in each deep mutational scan with respect to the identities of the wildtype and mutant residues, and the...
Alpay, B. A.
•
Nanda, P.
•
Nagy, E.
•
Desai, M. M.
biorxiv
Thu Jul 03 2025
CLONEID: A Framework for Longitudinal Integration of Phenotypic and Genotypic Data to Monitor and Steer Subclonal Dynamics
Understanding how genetic and phenotypic diversity emerges and evolves within cancer cell populations is a fundamental challenge in cancer biology. CLONEID is a novel framework designed to organize and analyze clone-specific measures as structured time-series data. By integrating and monitoring genotypic and phenotypic experimental data over time, CLONEID facilitates hypothesis-driven and hypothes...
Veith, T.
•
Beck, R. J.
•
Tagal, V.
•
Li, T.
...•
Andor, N.
biorxiv
Wed Jul 02 2025
A systematic assessment of phylogenomic approaches for microbial species tree reconstruction
A key challenge in microbial phylogenomics is that microbial gene families are often affected by extensive horizontal gene transfer (HGT). As a result, most existing methods for microbial phylogenomics can only make use of a small subset of the gene families present in the microbial genomes under consideration, potentially biasing their results and affecting their accuracy. To address this challen...
Weiner, S.
•
Feng, Y.
•
Gogarten, J. P.
•
Bansal, M. S.
biorxiv
Wed Jul 02 2025
MORPH Predicts the Single-Cell Outcome of Genetic Perturbations Across Conditions and Data Modalities
Modeling cellular responses to genetic perturbations is a significant challenge in computational biology. Measuring all gene perturbations and their combinations across cell types and conditions is experimentally challenging, highlighting the need for predictive models that generalize across data types to support this task. Here we present MORPH, a MOdular framework for predicting Responses to Per...
He, C.
•
Zhang, J.
•
Dahleh, M. A.
•
Uhler, C.
biorxiv
Wed Jul 02 2025
hoodscanR: profiling single-cell neighborhoods in spatial transcriptomics data
Understanding complex cellular niches and neighborhoods have provided new insights into tissue biology. Thus, accurate neighborhood identification is crucial, yet existing methodologies often struggle to detect informative neighborhoods and generate cell-specific neighborhood profiles. To address these limitations, we developed hoodscanR, a Bioconductor package designed for neighborhood identifica...
Liu, N.
•
Martin, J.
•
Bhuva, D. D.
•
Chen, J.
...•
Davis, M. J.
biorxiv
Wed Jul 02 2025
Inferring metabolite states from spatial transcriptomes using multiple graph neural network
Metabolism serves as the pivotal interface connecting genotype and phenotype in various contexts, such as cancer reprogramming and immune metabolic reprogramming. Compared to the transcriptome, the development of the single-cell metabolome faces significant challenges. While various methods exist for predicting metabolite levels from transcriptome, their efficacy remains limited. We developed an e...
Jiaxu, L.
•
Daosheng, A.
•
Sun, W.
biorxiv
Wed Jul 02 2025
Confidence: A Web App for Cross-Platform Differential Gene Expression Analysis, Gene Scoring, and Enrichment Analysis
RNA sequencing (RNA-seq) is used to quantify transcript levels through measurement of nucleotide sequences. To evaluate statistically significant changes in gene expression, transcript counts between samples are compared using differential expression analysis methods. However, three of the most pressing challenges in transcriptomics analyses are: 1) analytical packages produce a distinct number of...
Shastry, A.
•
Ott, B.
•
Paterson, A.
•
Simpson, M.
...•
Hindmarch, C. C. T.
biorxiv
Wed Jul 02 2025
Uncovering smooth structures in single-cell data with PCS-guided neighbor embeddings
Single-cell sequencing is revolutionizing biology by enabling detailed investigations of cell-state transitions. Many biological processes unfold along continuous trajectories, yet it remains challenging to extract smooth, low-dimensional representations from inherently noisy, high-dimensional single-cell data. Neighbor embedding (NE) algorithms, such as t-SNE and UMAP, are widely used to embed hi...
Ma, R.
•
Li, X.
•
Hu, J.
•
Yu, B.
biorxiv
Wed Jul 02 2025
nf-core/viralmetagenome: A Novel Pipeline for Untargeted Viral Genome Reconstruction
Motivation: Eukaryotic viruses present significant challenges for genome reconstruction and variant analysis due to their extensive diversity and potential genome segmentation. While de novo assembly followed by reference database matching and scaffolding is a commonly used approach, the manual execution of this workflow is extremely time-consuming, particularly due to the extensive reference cura...
Klaps, J.
•
Lemey, P.
•
nf-core community,
•
Kafetzopoulou, L. E.