🧬 Category

genomics

368 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

Ensembles of Graph Attention Networks Supervised by Genotype-to-Phenotype Structures Improved Genomic Prediction Performance

This study demonstrates that while incorporating data-driven genotype-to-phenotype structures into individual Graph Attention Networks did not consistently improve genomic prediction for maize flowering time, ensembling models across a continuum of such structures significantly enhanced prediction performance by integrating complementary information from diverse biological representations.

Tomura, S., Powell, O. M., Wilkinson, M. J., Cooper, M.2026-03-11
🧬 genomics

Gene conversion is a key driver of diversity hotspots in M. tuberculosis antigens and virulence-associated loci

By analyzing complete genome assemblies of 151 global *Mycobacterium tuberculosis* isolates, this study reveals that recurrent gene conversion within paralogous regions, particularly in virulence-associated PE, PPE, and ESX gene families, acts as a primary driver of significant antigenic and virulence diversity in this otherwise genetically conserved pathogen.

Marin, M. G., Quinones-Olvera, N., Jin, H., Harris, M. A., Jeffrey, B. M., Rosenthal, A., Murphy, K. C., Sassetti, C., L (…)2026-03-11
🧬 genomics

Unsupervised explainable AI reveals similar oligonucleotide-usage zones matching the highest-resolution human chromosome bands

This study demonstrates that unsupervised, explainable AI analysis of oligonucleotide usage patterns in the human genome reveals approximately 2,000 distinct functional zones that align with high-resolution prophase chromosome bands, effectively bridging classical cytogenetics and modern genomics by predicting banding structures from sequence data alone.

Ikemura, T., Iwasaki, Y., Wada, K., Wada, Y., Abe, T.2026-03-11
🧬 genomics

HIRA-mediated H3.3 deposition preserves hepatocyte cell identity during liver aging

This study demonstrates that the histone chaperone HIRA-mediated deposition of histone variant H3.3 is essential for preserving hepatocyte cell identity and metabolic function during aging in non-proliferating cells, a role that can be compensated for by canonical histone deposition during tissue regeneration-induced proliferation.

Arnold, R., Garcia Teneche, M., Lei, X., Gandhi, A., Huan Shi, C., Proulx, J., Rajesh, A., Havas, A. P., Su, S., Sethiya (…)2026-03-11
🧬 genomics

Genetic diversity and regulatory features of human-specific NOTCH2NL duplications

By analyzing near-complete long-read assemblies from human and ape genomes alongside organoid data, this study elucidates the evolutionary history, structural diversity, and regulatory landscape of human-specific NOTCH2NL duplications, revealing their independent origins, copy number variations, and distinct regulatory elements that likely contributed to human brain expansion.

Real, T. D., Hebbar, P., Yoo, D., Antonacci, F., Pacar, I., Dubocanin, D., Diekhans, M., Mikol, G. J., Popoola, O. G., M (…)2026-03-10
🧬 genomics

CollapsedChrom: resolving the assembly of collapsed chromosomal segments in polyploid genomes of the model grass genus Brachypodium

This study introduces CollapsedChrom, a novel bioinformatic pipeline that leverages read depth profiling and karyotypic data to successfully resolve and rescue collapsed chromosomal segments, thereby generating high-quality, chromosome-level reference genomes for the complex polyploid grass species *Brachypodium phoenicoides* and *B. boissieri*.

Catalan, P. R., Mu, W., Liu, J.2026-03-10
🧬 genomics

Biobank-scale genotyping of Robertsonian translocations reveals hidden structural variation on the human acrocentric chromosomes

This study introduces a novel short-read genotyping method to detect Robertsonian translocations in large biobank cohorts, revealing a consistent carrier frequency of approximately 0.11–0.12% and uncovering previously uncharacterized structural variations in distal junction regions of acrocentric chromosomes.

Rhie, A., Kim, J., Rodriguez-Algarra, F., Solar, S., Koren, S., Antipov, D., Wilczewski, C. M., Maxwell, G. L., Gerton (…)2026-03-10