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.
The paper introduces TEsingle, a computational tool that overcomes challenges in repetitive sequence alignment and intron retention to enable accurate, locus-specific analysis of transposable element expression in single-cell transcriptomes, revealing cell-type-specific TE dysregulation in Parkinson's disease.
This study demonstrates that stress-responsive enhancer RNAs, particularly EN526, function as active intermediates linking chromatin reprogramming to post-transcriptional control of senescence by regulating CDKN2C stability and translation, thereby influencing cellular aging and disease phenotypes.
This study presents a high-quality, near chromosome-scale genome assembly of the common pine sawfly (*Diprion pini*), generated using long-read and linked-read technologies without Hi-C sequencing, which provides a valuable resource for understanding its evolution, identifying unique genes related to plant metabolite processing, and developing improved pest management strategies.
This study demonstrates that BAF chromatin remodeling complexes are continuously required to maintain accessibility at stimulus-responsive "primed" enhancers, particularly those bound by AP-1 and lineage-defining transcription factors, thereby enabling the transcriptional responses to environmental cues like interferon gamma and dexamethasone.
An analysis of 1,001 European wolf genomes reveals a complex mosaic of distinct evolutionary lineages with varying levels of inbreeding and deleterious mutations, indicating that despite demographic recovery, many populations face significant genetic health risks that necessitate nuanced, region-specific conservation strategies.
This study establishes a cell-free system using Drosophila syncytial embryo extracts to demonstrate that complex chromatin architectures, including loops and topologically associating domains, can spontaneously reconstitute from soluble components, revealing that specific domain formation at the *eve* locus relies on direct boundary element pairing by the Su(Hw) protein rather than simple loop extrusion.
By integrating multi-scale evolutionary models to identify deleterious mutations, this study reveals that while domesticated sugar beets initially accumulated a higher genetic load than wild relatives, over a century of modern breeding has successfully purged these harmful variants, offering a refined set of targets for future crop improvement.
This study reveals that the invasive zebra and quagga mussels possess strikingly different sex determination architectures, with zebra mussels exhibiting a polygenic ZZ/ZW system and quagga mussels utilizing a localized XX/XY system driven by a novel male-determining *FoxL2-Y* locus, highlighting unexpected reproductive divergence and rapid evolutionary mechanisms in closely related invasive species.
This study presents a chromosome-level genome assembly of the C4 grass *Themeda triandra* that reveals karyotype orthology with sorghum, while comparative analyses of diverse accessions uncover significant genetic variations, including polyploidy and copy number changes in stress-response genes, offering valuable insights for climate-resilient crop improvement.
This study introduces a continual learning framework that integrates single-cell data from over 300 colorectal cancer patients with perturbation atlases to map causal mechanisms, revealing a distinct endoderm-like malignant state and demonstrating how MAPK inhibition drives therapeutic cell-state transitions.