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 presents the first high-quality, highly contiguous reference genome for the critically endangered Galapagos endemic *Scalesia gordilloi*, generated via Oxford Nanopore sequencing, to establish a foundational resource for conservation genomics and comparative evolutionary studies within the *Scalesia* radiation.
This paper introduces a network-based framework utilizing graph-theoretic metrics, specifically the superior C4 descriptor, to visualize and analyze sub-megabase interchromosomal interactions from Hi-C data, revealing shared interaction hotspots and distinct regulatory patches that organize chromosomes relative to the nuclear envelope.
This paper presents a gene model for the Density regulated protein (DENR) ortholog in *Drosophila eugracilis*, which was characterized as part of a Genomics Education Partnership project to study the evolution of the Insulin/insulin-like growth factor signaling pathway across the *Drosophila* genus.
This paper proposes a framework to assess biosecurity risks in generative genome design by distinguishing between evolutionary novelty and design efficiency, finding that while the Evo 2 model significantly improves the creation of viable bacteriophage genomes, its outputs remain phylogenetically close to natural sequences, suggesting only low to moderate biosecurity concerns for de novo hazard creation.
This study reveals that Rice's whale, one of the world's most endangered baleen whales, has persisted as a small, isolated population in the Gulf of Mexico for tens of thousands of years with a recent introgression event from Bryde's whales, yet faces high future extinction risk from inbreeding and genomic erosion unless immediate management actions promote population growth.
This paper presents the first Hi-C datasets and associated multi-resolution 3D models for the filamentous fungus *Podospora anserina*, providing a crucial resource to visualize its chromosome spatial organization and integrate with existing omics data.
This study utilizes single-nucleus multiomic analysis of over 100,000 mouse pituitary nuclei across the estrous cycle to map stage-specific transcriptional and epigenetic remodeling, revealing dynamic gene regulatory circuits—particularly an ETS2-driven mechanism in gonadotropes—that govern cellular state transitions and hormone gene expression.
This paper introduces Hierarchical Belief Propagation (HBP) and Graph-Augmented Fine-Mapping (GAFM), methods that leverage relational biological structures via message passing to significantly outperform existing Bayesian fine-mapping tools in accuracy and speed, particularly for resolving causal variants under weak signals and across diverse species.
This study introduces lrSAGA, a specialized assembly tool that effectively mitigates the high chimera rates and coverage biases inherent in multiple displacement amplification (MDA) of single cells, enabling the generation of accurate, high-quality long-read genome assemblies for diverse uncultivated microbial eukaryotes.
This paper introduces Terminal Mapping, a novel high-throughput, ligase-independent method that outperforms traditional techniques in detecting viral integration sites by combining linear amplification and poly-A tailing to profile host-insert junctions with improved robustness and reduced bias.