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.
This study demonstrates that gene expression dispersion is a distinct, genetically encoded regulatory feature reflecting transcriptional fidelity, which is structured by biological function, enriched for cis-regulatory control, and operates independently of mean expression levels.
This study demonstrates that an epigenetic index of adult cognition ("Epigenetic-g") captures distinct genetic and environmental variation in children's cognitive and academic performance that is not reflected by polygenic indices, showing plasticity in early childhood and moderate stability by adolescence without predicting longitudinal cognitive growth.
This study reveals that the global rise of pneumococcal serotype 12F following vaccine introduction is driven by both distinct regional lineages and a multidrug-resistant global clone, while also identifying reversible strand-slippage mutations in the *wciJ* gene as a novel mechanism for phase variation that allows subpopulations to evade vaccine-induced antibody killing.
StrataBionn is a novel supervised neural network framework that outperforms traditional methods in classifying microbial communities into community state types across diverse anatomical sites by effectively capturing complex, non-linear taxonomic signatures to provide more robust and accurate microbiome stratification.
The paper introduces GrAdaBeam, a hybrid optimization algorithm that combines gradient-derived attention maps with adaptive beam search to outperform existing methods across 17 diverse nucleic acid design tasks in the new NucleoBench benchmark, demonstrating superior generalization and biological signal recovery.
This study characterizes over 100 autosomal loci called Inactivation/Stability Centers (I/SCs) that exhibit stochastic, mitotically stable, allele-specific epigenetic regulation of gene expression and replication timing, creating cellular mosaicism that impacts numerous dosage-sensitive genes associated with human diseases.
An analysis of 12 soil viromics datasets reveals that temperate bacteriophages consistently exhibit significantly higher microdiversity than virulent ones, suggesting that lysogeny promotes or preserves genetic variation within phage populations.
This study utilizes population genomics of *Schistosoma japonicum* in post-re-emergence Sichuan, China, to reveal that the disease's resurgence was driven by a genetically diverse parasite population sustained in non-human reservoirs and transmitted through a network of highly focal, locally connected villages.
This study utilizes whole-genome sequencing of 94 *Sporothrix* isolates to reveal distinct evolutionary strategies between *S. brasiliensis* and *S. schenckii*, highlighting how recent population expansion, specific copy number variations, and polygenic adaptations have driven the emergence and antifungal resistance of the epidemic *S. brasiliensis* in South America.
This study presents a near-complete, chromosome-level, haplotype-resolved genome assembly of common buckwheat (Fagopyrum esculentum) using a trio-binning approach, providing a high-quality genomic resource to overcome challenges posed by the species' high heterozygosity and accelerate future breeding and research efforts.