238 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 lineage-specific deletion of the catalytic subunit CK2α in hematopoietic stem cells triggers a tissue-context-dependent transcriptional reprogramming toward an immune-primed state characterized by inflammatory signaling and altered cell-cell communication, mediated by specific immune-associated transcription factors.
This paper presents evidence that the human genome functions as a deterministic computational kernel, characterized by a fixed instruction set, organized memory, and a centralized signal dispatch network converging on the mitochondrial genome, with these structural properties validated through extensive statistical testing and evolutionary conservation.
MetaMuse is a modular multi-agent AI framework that autonomously extracts, validates, and standardizes unstructured biomedical metadata using a three-stage architecture of Curator, Arbitrator, and Normalizer agents, achieving over 95% accuracy while ensuring data integrity through conservative handling of ambiguous evidence.
This paper introduces CanVAS, a harmonized and imputed canine variant atlas that integrates 15 diverse datasets into a single resource of over 15,000 dogs and 9.7 million variants on the CanFam4 reference assembly, thereby overcoming previous data incompatibilities to facilitate large-scale genetic studies of complex diseases in dogs.
By analyzing MRI data from nearly 40,000 UK Biobank participants, this study reveals that while Neanderthal alleles causing major neuroanatomical divergence were largely purged, a subset of tolerated introgressed variants continues to subtly shape present-day human brain morphology and influence susceptibility to neuropsychiatric disorders.
By leveraging pre-colonial palaeogenomes to correct biases in existing methods, this study establishes a scalable framework for accurately estimating European dog admixture in dingoes, thereby revealing ancient population structures and enabling more effective, regionally informed conservation management.
This study presents a chromosome-scale genome assembly and salt gland transcriptome analysis of the saline-tolerant mosquito *Aedes togoi*, revealing novel genomic features and identifying key ion-transport mechanisms that enable its larvae to thrive in hyper-saline coastal environments.
This study demonstrates that while the yeast helicase Ded1 is critical for translating mRNAs with structured 5'UTRs, its primary mechanism of action is the unwinding of secondary structures rather than the widespread suppression of upstream ORF translation.
This paper introduces EVEE, an interactive web resource that leverages embeddings from the Evo 2 genomic foundation model to achieve state-of-the-art, interpretable pathogenicity predictions for diverse genetic variants across a unified framework, transforming interpretability from a trade-off into a complementary product of learned biological structure.
This study utilizes genomic epidemiology and phylodynamic modeling to track the 2017–2023 *Mycoplasma bovis* outbreak in New Zealand, demonstrating how movement restrictions and culling successfully reduced transmission and eliminated major lineages by 2020, while highlighting the critical role of integrated genomic surveillance in guiding eradication efforts.