🧬 Category

genomics

309 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

Atopic Dermatitis and Psoriasis Differ in Lesional DEG Reference Instability and Non-Lesional Spectrum Displacement: Multi-Cohort Geometric Evidence of Individual Homeostatic Boundary Escape

By applying a geometric transcriptomic framework to multi-cohort data, this study reveals that atopic dermatitis exhibits greater reference-dependent instability in lesional gene expression due to smaller effect sizes and demonstrates that a significant subset of non-lesional patients has already crossed a homeostatic boundary into disease-specific states, a phenomenon masked by traditional group-averaged analyses.

Shabana, B.2026-03-19
🧬 genomics

Modeling cis-regulatory variation in human brain enhancers across a large Parkinson's Disease cohort

This study establishes a comprehensive resource and novel sequence modeling strategies by integrating multi-omics data from 190 human donors to map cell type-specific cis-regulatory variants in the brain, enabling the functional interpretation of non-coding Parkinson's disease risk loci.

Sigalova, O. M., Pancikova, A., De Man, J., Theunis, K., Hulselmans, G. J., Konstantakos, V., Stuyven, B., De Brabandere (…)2026-03-19
🧬 genomics

OxBreaker: species-agnostic pipeline for the analysis of outbreaks using nanopore sequencing

OxBreaker is an automated, species-agnostic, and user-friendly open-source pipeline that leverages Oxford Nanopore sequencing to enable non-specialists to perform high-resolution, real-time genomic surveillance of bacterial outbreaks with accuracy comparable to short-read platforms.

Reding, C., Hopkins, K. M. V., Colpus, M., Sanderson, N. D., Gentry, J., Oakley, S., Campbell, M., Karageorgopoulos, D. (…)2026-03-19
🧬 genomics

Interpretable and predictive models based on high-dimensional data in ecology and evolution

This paper evaluates nine statistical and machine learning methods for handling high-dimensional ecological and evolutionary data, finding that while overfitting is common and accurate variable selection often unattainable under realistic sampling schemes, sparse models can still achieve predictive accuracy and mitigate overfitting when data attributes such as sample size, effect strength, and variable count are favorable.

Jahner, J. P., Buerkle, C. A., Gannon, D. G., Grames, E. M., McFarlane, S. E., Siefert, A., Bell, K. L., DeLeo, V. L., F (…)2026-03-18
🧬 genomics

De novo assembly of complete Plasmodium falciparum isolate genomes using PacBio HiFi sequencing technology

This study demonstrates that PacBio HiFi long-read sequencing enables the accurate de novo assembly of complete Plasmodium falciparum genomes, including complex Variant Surface Antigen families, from 43 natural isolates in The Gambia, providing a high-quality genomic resource for studying parasite evolution and antigenic diversity.

Nyarko, P., Quenu, M., Guery, M.-A., Cohen, C., Girgis, S. T., Makunin, A., McCarthy, S. A., Hamilton, W. L., Lawniczak (…)2026-03-18
🧬 genomics

Exon Targeted Retrieval and Classification Toolbox (ExTRaCT): a gene search pipeline to find APOBEC3 Z-domains in novel bat genomes

The authors present ExTRaCT, an efficient and user-friendly automated pipeline designed to identify and classify conserved gene exons, such as APOBEC3 Z-domains, in novel species genomes without relying on whole-genome annotations or closely related reference species.

Delamonica, B., Bat1K 21-Families Group,, Larijani, M., MacCarthy, T., Davalos, L. M.2026-03-18
🧬 genomics

Genome-scale functional mapping of the mammalian whole brain with in vivo Perturb-seq

This study presents a genome-scale functional atlas of the mouse brain by using an enhanced in vivo Perturb-seq platform to profile transcriptome-wide responses to the loss of 1,947 disease-associated genes across 7.7 million cells, revealing cell-type-specific essentiality and opposing transcriptional programs that advance our understanding of neurodevelopmental, psychiatric, and neurodegenerative diseases.

Shi, T., Korshunova, M., Kim, S., DeTomaso, D., Zheng, X., Vishvanath, L., Nyasulu, T., Huynh, N., Sun, A., Thompson, P. (…)2026-03-18
🧬 genomics

A relic at risk: Genomic evidence for an early-diverging domesticated lineage in Norwegian farmhouse yeast

This study presents genomic evidence that Norwegian farmhouse "kveik" yeasts represent an early-diverging, distinct lineage of *Saccharomyces cerevisiae* domestication dating back 4,000–8,000 years, preserving a relic of ancient human brewing practices with minimal admixture from other domesticated strains.

Dondrup, M., Martinussen, A. O., Haugland, L. K., Brandenburg, J., Inanli, O., Schroeder, H., Dolan, D., Grellscheid, S. (…)2026-03-18