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 the first complete, gapless telomere-to-telomere assembly of the Y chromosome (CQ-chrY) for the father of the Chinese Quartet, integrating multi-platform sequencing data to resolve complex repetitive regions and provide a high-quality paternal haplotype resource for advancing East Asian genomic standards.
The paper introduces RLZ-RePair, a scalable algorithm that constructs exact RePair grammars from Relative Lempel-Ziv parses to achieve over 80% memory reduction while maintaining the compression quality and theoretical properties of standard RePair.
The authors present CSI-SSU, a scalable command-line tool that utilizes SSU phylogenetic placement and bacterial BUSCO searches to screen genomic assemblies for contamination and validate taxonomic identities, as demonstrated by its application to 2,960 assemblies from the Protist 10,000 Genomes (P10K) initiative.
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.