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 demonstrates the feasibility of non-invasive whole genome sequencing of humpback whales by collecting exhaled blow samples via drone, successfully generating high-quality genetic data sufficient for population genomics without the need for invasive tissue sampling.
This study utilizes longitudinal data from birth to adulthood to identify dynamic genetic variants that regulate DNA methylation in an age-dependent manner, revealing that these influences often increase over time and are enriched in developmental pathways.
This study presents a high-quality, chromosome-level genome assembly of the parthenogenetic nematode *Acrobeloides nanus*, generated through integrated Nanopore, PacBio HiFi, and Hi-C sequencing, to serve as a foundational resource for investigating its unique asexual reproduction, developmental differences from *C. elegans*, and extreme desiccation resistance.
This study presents an optimized iMAP CRISPR perturbation platform that overcomes previous recombination biases to systematically map the tissue-specific essentiality of RNA modification factors across 46 mouse tissues and identify Thg1l as a therapeutic target for enhancing NK cell-mediated tumor killing.
This study reveals that acute ethanol exposure triggers widespread but genetically contingent alternative polyadenylation in *Drosophila melanogaster*, where cosmopolitan French populations predominantly exhibit 3' UTR shortening while ancestral Zambian populations show 3' UTR lengthening, highlighting population-specific APA remodeling as a key molecular mechanism underlying adaptive responses to environmental stress.
This study presents a high-quality, chromosome-level reference genome assembly for the colonial marine hydrozoan *Podocoryna americana*, generated using PacBio and Hi-C sequencing, which provides a valuable resource for investigating cnidarian evolution, development, and gene family dynamics.
By integrating ribosome profiling and Nanopore direct RNA sequencing across multiple *Saccharomyces* species, this study identifies thousands of translated upstream ORFs in yeast that encode conserved, functional microproteins under purifying selection, while demonstrating that downstream ORFs are largely non-conserved and less likely to be functional.
This paper introduces the TRExplorer catalog v1.0, a comprehensive, 4.86-million-locus tandem repeat resource designed for both short- and long-read analyses that resolves inconsistencies in existing catalogs by defining variation clusters through a novel algorithm, thereby enabling more accurate genome-wide genotyping and facilitating a unified portal for data access.
This study establishes a comprehensive atlas of mammalian non-canonical open reading frames (ncORFs) by analyzing ribosome profiling data from hundreds of tissues, revealing that thousands of these elements are evolutionarily conserved, highly translated, and functionally integrated into the proteome through co-translation with canonical coding sequences.
GALA is a unified, landmark-free framework that leverages genetic algorithm-guided large deformation and modality-aware rasterization to achieve robust, accurate, and efficient spatial alignment of transcriptomic and histological data across diverse resolutions, modalities, and tissue coverage scenarios.