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

LAMBDA: A Prophage Detection Benchmark for Genomic Language Models

The paper introduces LAMBDA, a comprehensive benchmark designed to evaluate the predictive capabilities of genomic language models through phage-bacteria sequence discrimination, revealing critical insights into the importance of training data quality and domain-specific training for effective prophage detection.

Lindsey, L. M., Pershing, N. L., Dufault-Thompson, K., Gwak, H.-j., Habib, A., Schindler, A., Rakheja, A., Round, J., St (…)2026-03-26
🧬 genomics

Identification of two genomic cryptotypes of Plasmodium malariae in Africa

By analyzing whole-genome sequencing data from African and South American samples, this study reveals the existence of two genetically distinct yet recombining cryptotypes of *Plasmodium malariae* across Africa, characterized by specific adaptive signatures that contribute to the parasite's persistence and transmission.

Lefebvre, M. J. M., Arnathau, C., Houze, S., de Thoisy, B., Gonzalez, C., Rondon, S., Link, A., Pain, A., Fontaine, M. C (…)2026-03-25
🧬 genomics

Point cloud local ancestry inference (PCLAI): continuous coordinate-based ancestry along the genome

The paper introduces Point Cloud Local Ancestry Inference (PCLAI), a novel method that replaces discrete ancestry labels with continuous coordinate-based representations to model genetic variation at the haplotypic level, enabling time-stratified insights into how genomic segments have migrated across space and time.

Geleta, M., Mas Montserrat, D., Ioannidis, N. M., Ioannidis, A. G.2026-03-25
🧬 genomics

Co-infections and cryptic pathogens uncovered by metatranscriptomics in New Zealands severe acute respiratory infections

By applying metatranscriptomic sequencing to 300 PCR-negative severe acute respiratory infection samples in New Zealand, this study uncovered a diverse array of co-infecting viral, bacterial, and fungal pathogens missed by routine diagnostics, demonstrating the critical value of genomic approaches for improving diagnostic accuracy and public health surveillance.

Holdsworth, N., French, R., Waller, S., Jelly, L., Oneill, M., de Vries, I., Dubrelle, J., French, N., Bloomfield, M., W (…)2026-03-24
🧬 genomics

Standalone nanopore sequencing for foodborne pathogen surveillance: a large-scale evaluation and quality control framework

This study demonstrates that standalone Oxford Nanopore sequencing of native DNA is sufficiently accurate for routine foodborne pathogen surveillance when supported by a new quality control framework, alpaqa, which identifies and mitigates systematic assembly errors caused by specific DNA modifications.

Biggel, M., Cernela, N., Horlbog, J., DeMott, M. S., Dedon, P. C., Hall, M. B., Chen, J., Smith, P., Carleton, H. A., St (…)2026-03-24
🧬 genomics

Genetic Diversity of Cytochrome P450 Genes in Apis mellifera Subspecies

This study presents the first comprehensive analysis of genetic diversity in *Apis mellifera* Cytochrome P450 genes across 1,467 individuals from 18 subspecies, revealing that positive selection has driven adaptive variation in detoxification-related CYP3 clan genes, thereby establishing a foundational pharmacogenomic resource to predict pesticide vulnerabilities and enhance pollinator resilience.

Li, F., Lima, D., Bashir, S., Yadro Garcia, C., Lopes, A. R., Verbinnen, G., de Graaf, D. C., De Smet, L., Rodriguez, A. (…)2026-03-24✓ Author reviewed
🧬 genomics

Single-cell atlas of pig-to-monkey kidney xenotransplantation reveals macrophage chimerism and an IFN-ε orchestrated graft protective immune niche

This study presents a single-cell atlas of pig-to-monkey kidney xenotransplantation that reveals macrophage chimerism and identifies an epithelial-derived IFN-ε axis as a critical orchestrator of a graft-protective immune niche, offering new insights into xenograft adaptation and potential therapeutic targets.

Wang, H., Chen, J., Chang, Y., Ci, W., Hua, X., Yu, F., Yang, S., Zhang, X., Song, J., Fan, Y.2026-03-24
🧬 genomics

Transposable element-host genome evolutionary arms race revealed by multi-modal epigenomic profiling in a telomere-to-telomere human genome reference

By leveraging multi-modal epigenomic profiling across a telomere-to-telomere human genome reference, this study reveals that transposable elements, particularly SVA and specific Alu and LTR subfamilies, engage in an evolutionary arms race with host defense systems primarily by escaping H3K9me3-mediated heterochromatinization and progressively invading CTCF-rich regulatory regions to drive genomic innovation.

Nikitin, D.2026-03-23✓ Author reviewed