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 a high-quality, subgenome-resolved, chromosome-scale reference genome assembly of the drought-tolerant and stem rust-resistant allotetraploid wheat wild relative *Aegilops peregrina* (PI 604178), generated using PacBio HiFi and Hi-C sequencing to provide a robust genomic framework for wheat improvement.
By integrating epigenomics and AI across 240 placental mammals, this study reveals that cell-type-specific aging programs driving neurodegenerative vulnerability are subject to distinct selective pressures in long-lived species, challenging the notion of a single master regulator of aging.
This study presents high-quality, haplotype-resolved chromosome-level genome assemblies and annotations for four European white oak species (*Quercus robur*, *Q. petraea*, *Q. pubescens*, and *Q. frainetto*), providing a standardized genomic framework to advance comparative analyses, pangenome construction, and evolutionary studies within this ecologically and economically important group.
This study presents high-quality genome assemblies for 18 Streptomyces type strains, revealing that phytopathogenic species possess larger genomes enriched in metabolic genes, exhibit significant chromosomal rearrangements, and do not rely on conserved plasmids for pathogenicity, thereby providing a crucial resource for understanding plant disease mechanisms.
This study reports the first complete mitochondrial genomes of West Nile virus vectors *Culex quinquefasciatus* and *Culex tarsalis* from Arizona, utilizing a novel long-range PCR and Pacific Biosciences HiFi sequencing method to reveal unique genomic features and establish a new approach for global vector population surveillance.
AlphaVaR is an R framework that provides statistical methods, visualizations, and a Shiny application to interpret the high-volume, multi-track variant-effect predictions generated by AlphaGenome, enabling the localization, prioritization, and biological validation of DNA variants.
This study demonstrates that by applying stringent error filtering, low-heteroplasmy mitochondrial DNA mutations can be effectively utilized as abundant, bona fide lineage barcodes to significantly enhance the resolution of clonal reconstruction in human cells without the need for genetic engineering.
By integrating three single-cell spatial technologies to profile 1.5 million cells across the maternal mouse brain, this study reveals distinct pregnancy-associated molecular programs in neurons and glia and identifies a dynamic concentration of depression risk genes in specific remodeling circuits, offering a cellular basis for peripartum vulnerability.
This paper provides essential guidelines and highlights potential pitfalls for the experimental design and data analysis of Fiber-seq, a high-resolution technique that detects chromatin accessibility on individual DNA fibers to enable detailed qualitative descriptions of regulatory regions.
By integrating single-cell and spatial multi-omics with native barcoding, this study elucidates how chromosomal instability drives the spatial and temporal phenotypic diversity of a malignant peripheral nerve sheath tumour by linking gene dosage effects to evolutionary branching and microenvironmental interactions.