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 presents a high-quality, chromosome-level genome assembly of the South African lion (Panthera leo melanochaita) generated using PacBio HiFi and Omni-C technologies, providing a critical genomic resource to support future population genomic and conservation efforts for this threatened species.
This study demonstrates that while incorporating data-driven genotype-to-phenotype structures into individual Graph Attention Networks did not consistently improve genomic prediction for maize flowering time, ensembling models across a continuum of such structures significantly enhanced prediction performance by integrating complementary information from diverse biological representations.
This study defines the comprehensive interactome of the pioneer factor Zelda in *Drosophila* embryos, revealing that it recruits a diverse array of co-activators, chromatin remodelers, and the transcriptional machinery to orchestrate zygotic genome activation while coordinating transcription with early mitotic cycles.
By analyzing complete genome assemblies of 151 global *Mycobacterium tuberculosis* isolates, this study reveals that recurrent gene conversion within paralogous regions, particularly in virulence-associated PE, PPE, and ESX gene families, acts as a primary driver of significant antigenic and virulence diversity in this otherwise genetically conserved pathogen.
This study demonstrates that unsupervised, explainable AI analysis of oligonucleotide usage patterns in the human genome reveals approximately 2,000 distinct functional zones that align with high-resolution prophase chromosome bands, effectively bridging classical cytogenetics and modern genomics by predicting banding structures from sequence data alone.
This study demonstrates that the histone chaperone HIRA-mediated deposition of histone variant H3.3 is essential for preserving hepatocyte cell identity and metabolic function during aging in non-proliferating cells, a role that can be compensated for by canonical histone deposition during tissue regeneration-induced proliferation.
This paper introduces a controlled benchmarking framework to evaluate DNA foundation models like Evo2, revealing systematic blind spots in their ability to capture essential biological signals and challenging their current readiness for clinical variant-effect prediction.
By analyzing near-complete long-read assemblies from human and ape genomes alongside organoid data, this study elucidates the evolutionary history, structural diversity, and regulatory landscape of human-specific NOTCH2NL duplications, revealing their independent origins, copy number variations, and distinct regulatory elements that likely contributed to human brain expansion.
This study introduces CollapsedChrom, a novel bioinformatic pipeline that leverages read depth profiling and karyotypic data to successfully resolve and rescue collapsed chromosomal segments, thereby generating high-quality, chromosome-level reference genomes for the complex polyploid grass species *Brachypodium phoenicoides* and *B. boissieri*.
This study introduces a novel short-read genotyping method to detect Robertsonian translocations in large biobank cohorts, revealing a consistent carrier frequency of approximately 0.11–0.12% and uncovering previously uncharacterized structural variations in distal junction regions of acrocentric chromosomes.