🧬 Category

genomics

415 papers

Genomics is the study of an organism's complete set of DNA, offering a deep dive into the biological instructions that shape life. This field explores how genetic information influences traits, health, and evolution, moving beyond single genes to understand the complex interplay within entire genomes. From uncovering the roots of disease to mapping biodiversity, genomics provides the foundational data for many modern medical breakthroughs.

At Gist.Science, we process every new preprint in this category as it appears on bioRxiv, ensuring you stay ahead of the curve. Each paper is accompanied by both a clear, plain-language overview and a detailed technical summary, making cutting-edge research accessible to everyone regardless of their background. Below are the latest papers in genomics, freshly summarized and ready for you to explore.

🧬 genomics

Pangenome discovery and characterization of human protein-coding duplicated genes

By integrating long-read genomic and transcriptomic data from diverse human samples, this study characterizes the human pangenome's protein-coding duplicated genes to discover thousands of novel copy number polymorphic genes, refine existing gene models by reclassifying pseudogenes as functional, and reveal that evolutionary constraints are predominantly found in ancestral rather than recently derived duplicated genes.

Ren, L., Yoo, D., Vlajic, K., Dishuck, P. C., Guitart, X., Kwon, Y., Lin, J., Munson, K. M., Hoekzema, K., Stergachis, A (…)2026-08-06
🧬 genomics

Adult porcine intestinal organoids as models for regional epithelial identity and individual regulatory variation

This study demonstrates that adult porcine intestinal organoids, while exhibiting a relatively immature transcriptional state and reduced immune spatial patterning, successfully retain substantial regional epithelial identity and preserve animal-specific regulatory signatures, thereby validating their utility as controlled models for functional follow-up of candidate genes and variants in farm animals.

Blanc, F., CHALABI, S., Pepke, F., Mongelaz, M., Charles, M., Rau, A., Djebali, S., Egidy-Maskos, G., Giuffra, E.2026-08-05
🧬 genomics

Whole-genome sequencing data of a diverse grapevine germplasm collection maintained in Bordeaux, France

This paper presents a standardized whole-genome variant dataset comprising approximately 9.1 million SNPs and 0.77 million INDELs for 547 diverse grapevine accessions from the INRAE Bordeaux collection, generated through uniform sequencing and analysis to serve as a harmonized resource for grapevine genetics, breeding, and population genomics research.

de Miguel, M., Lafargue, M., Saez-Laguna, E., Tran, J., Girollet, N., Bert, P.-F., Wang, Y., Liang, Z., Guillaumie, S. (…)2026-08-05
🧬 genomics

Trajectory Uncertainty Framework (TUF): A Modular Framework for Identifying Transitional and Branch-Point Cell States in Single-Cell Trajectory Analysis

This paper introduces the Trajectory Uncertainty Framework (TUF), a modular, open-source tool that quantifies single-cell trajectory uncertainty through Temporal Entropy and Trajectory Divergence scores to identify transitional states and reveal context-specific transcriptional drivers across diverse biological systems.

Mahdavifar, M., Mohammadifar, Z., Iranpourtari, T.2026-08-05
🧬 genomics

Omega-seq: ultra-low-background RNA sequencing with faithful molecular counting and precise transcript-end capture

Omega-seq is an ultra-low-background RNA sequencing method that utilizes USER-excisable template-switching oligonucleotides and a specialized dT primer to eliminate phantom UMIs and poly-T artifacts, enabling faithful molecular counting and precise transcript-end mapping even in minute samples like single Drosophila neuroblasts.

Chen, H.-M., Kao, J.-C., Yang, C.-P., Tan, C., Lee, T., Sugino, K.2026-08-01
🧬 genomics

Multiple origins of endogenous virophage and polinton-like virus in the halophilic protist Halocafeteria seosinensis

This study reveals the unprecedented abundance and diversity of endogenous virophages and Polinton-like viruses within the genome of the halophilic protist *Halocafeteria seosinensis*, highlighting their complex genetic exchange, supraparasitism by mobile elements, and significant contribution to the host's genomic landscape.

Haro, R., Gallot-Lavallee, L., Blais, C., Archibald, J. M.2026-07-30
🧬 genomics

Germline genomic and methylomic dynamics following three generations of early-life metabolic challenges

This study demonstrates that three generations of early-life metabolic challenges in mice induce genome instability and constrain genetic variability through transposable element activity and copy number variations, rather than through widespread DNA methylation changes.

de Anca Prado, V., Pertille, F., Andersson, D., Mourin-Fernandez, M., Godia, M., Jimenez-Chillaron, J. C., Ruegg, J., Gu (…)2026-07-24