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 reveals that superabundant microRNAs, specifically miR-1275 and miR-6724, are transcribed from human rDNA spacer promoters flanked by CTCF, processed and exported rapidly independent of canonical pathways, and function as circulating cancer biomarkers with potential general regulatory roles.
This manuscript has been withdrawn because the *Catonephele numilia* specimen was misidentified as *Catonephele acontius*, rendering the reported *C. numilia* genome data invalid while the *C. acontius* data remains unaffected.
This study presents the high-quality, near-chromosome-scale genome assembly of the beneficial agricultural fungus *Trichoderma gamsii* strain T035, providing a crucial resource to elucidate its biocontrol mechanisms and advance sustainable plant protection strategies.
ChIANet is a multimodal deep learning framework that accurately predicts protein-mediated 3D chromatin architectures from binding profiles alone, revealing that genome folding is dynamically shaped by functional context and regulatory targets across diverse cellular and cancer states.
This paper presents practical, scalable software tools for annotating spliced leader acceptor sites, polyadenylation sites, and untranslated regions in trypanosomatid parasites using short-read RNA sequencing data, which were then applied to comprehensively annotate UTRs across all available genomes of these organisms.
The paper introduces Lorax, a GPU-accelerated, web-native platform that enables real-time, interactive visualization and exploration of biobank-scale ancestral recombination graphs by integrating genomic position, coalescent time, local genealogy, and metadata.
This study utilized whole-genome sequencing of CRFK and PG-4 feline cell lines to infer the coat and iris phenotypes of their original donor cats, thereby elucidating their previously unknown genetic backgrounds and providing a foundation for more accurate interpretation of feline cell data and future genome-editing research.
This paper presents a scalable workflow that integrates large-scale experimental data and predictive models to reclassify the majority of existing variants of uncertain significance (VUS) and preclassify future unobserved variants for 40 disease-associated genes, thereby significantly advancing the clinical application of genomic medicine.
This study presents a reproducible, interpretable pipeline that combines SHAP-guided CpG selection with a stacked ensemble of deep learning and tree-based models to achieve high-accuracy, cross-tissue epigenetic age prediction supported by robust biological annotations.
This study presents two high-quality, regionally representative reference genome assemblies for Australian giant kelp (*Macrocystis pyrifera*), revealing significant genetic and functional divergence from Northern Hemisphere populations and providing essential resources for the conservation and restoration of remnant Southern Hemisphere forests.