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.
The paper introduces "Combine," a scalable group lasso framework that integrates local ancestry dosages with genotype data to significantly enhance polygenic risk prediction accuracy and interpretability in admixed populations, outperforming existing multi-ancestry methods while matching optimized individual-level models.
The paper introduces SNACKKSS, a system that automatically curates transcriptomic data and biomedical literature to predict pharmacologic gene regulators, demonstrating that its machine learning-based predictions significantly enhance drug repurposing efforts for Mendelian disorders while highlighting the importance of cross-device model validation.
HiFi-Helper is a reproducible, user-friendly Snakemake workflow that leverages affordable PacBio Revio HiFi reads to generate high-quality genome assemblies with intuitive visual feedback for parameter optimization, often surpassing the quality of previous decades' efforts with significantly reduced time and resource investment.
This study presents a novel bioluminescence resonance energy transfer (BRET) assay that enables the real-time measurement of telomere length in living *S. cerevisiae* cells by correlating energy transfer between luciferase-Rif2 and fluorescent Rap1 with telomeric nucleotide counts validated by long-read sequencing.
This study presents a high-quality, chromosome-level genome assembly for a Chilean *Tigriopus* population (tentatively identified as *Tigriopus* aff. *angulatus*), generated using multi-platform sequencing to provide essential genomic resources for investigating adaptation and diversity within this globally distributed copepod genus.
This study reveals that while biotic-response networks remain conserved in wild *Arabidopsis thaliana* populations across diverse natural environments, the overall transcriptome organization and regulatory relationships differ significantly from those observed in controlled laboratory settings.
This study identifies recurrent, sequencing-center-specific artefactual within-host variants in SARS-CoV-2 deep-sequencing data and proposes a dataset-aware masking framework to eliminate these noise sources, thereby improving the accuracy of downstream evolutionary and transmission inferences.
This study reveals that in *Arabidopsis thaliana*, the position of the first intron predicts active chromatin marks near transcription start sites, while the total number of introns correlates with gene-body chromatin features and broad expression, suggesting two distinct mechanisms by which intron architecture shapes chromatin states and gene regulation.
This study presents a complete, custom diploid genome assembly and comprehensive annotation for the KOLF2.1J reference iPSC line, offering a more accurate genomic resource than traditional references to improve the investigation of neurodegenerative disease mechanisms and establish a framework for future high-value cell line references.
This study demonstrates that persistent SARS-CoV-2 Spike protein in the gut tissues of Long COVID patients drives localized immune dysregulation characterized by specific gene expression changes, myeloid and T-cell enrichment, and a dysfunctional pro-inflammatory microenvironment, particularly within the colon.