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.
This study demonstrates that transient delivery of DNA methylation-based epigenome editors to human hematopoietic stem cells enables stable, heritable, and reversible silencing of the platelet integrin ITGB3, resulting in sustained prevention of thrombosis through impaired platelet aggregation.
This study establishes that meiotic cells utilize two distinct DNA repair pathways to direct crossovers away from transcriptionally active genes, thereby safeguarding gene function through an evolutionarily conserved mechanism where early transcriptional context determines whether a double-strand break is resolved as a non-crossover or a crossover.
This study analyzes mutation profiles from nearly 12,000 normal human samples across 25 tissues to identify both universal and tissue-specific mutagenic mechanisms, revealing that while clock-like processes and APOBEC activity are widespread, UV-induced mutagenesis is skin-specific and diseased tissues exhibit significantly higher, age-independent mutation accumulation.
Pathotypr is a rapid, alignment-free tool that enables harmonized assignment of all 14 recognized *Mycobacterium tuberculosis* complex lineages and high-confidence detection of drug-resistance variants from genomic data, facilitating near real-time, cross-border tuberculosis surveillance.
This study presents the first chromosome-level genome assembly of the invasive erythrina gall wasp (*Quadrastichus erythrinae*) and its *Wolbachia* endosymbiont, providing a foundational resource for comparative evolutionary and pest management research.
This study demonstrates that heat stress induces locus-specific DNA hypomethylation in the blood of lactating Holstein cows, particularly within regulatory regions of immune-related genes such as MSN and MECP2, thereby revealing a novel epigenetic mechanism underlying the modulation of the dairy cow immune system under environmental stress.
This study establishes a comprehensive genomic database of 2,658 *Desulfovibrio* genomes to reveal species-specific functional traits, such as flagellin-mediated immune modulation and disease-exclusive metabolic pathways, that link strain variation to inflammatory diseases.
This study suggests that temperate and filamentous bacteriophages may drive the emergence of virulence in stony coral tissue loss disease (SCTLD) by integrating into bacterial genomes and transferring virulence genes, offering a potential mechanistic explanation for the disease's pathology despite the unknown primary etiological agent.
This study presents the first telomere-to-telomere reference genome and a pangenome for the common marmoset, resolving complex genomic regions like centromeres and the MHC to significantly enhance its utility as a biomedical model and deepen our understanding of primate evolution.
The paper introduces PlasBin-HMF, a novel multi-flow approach formulated as a Mixed-Integer Linear Program that outperforms existing state-of-the-art methods in accurately binning circular plasmids from short-read assembly graphs while maintaining explainability.