418 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.
By comparing genome assemblies across seven canine lineages, this study estimates that new LINE-1 and SINEC retrotransposon insertions occur at rates of 1/184 and 1/22 births, respectively, revealing that the high levels of dimorphic retrotransposons in dogs primarily reflect long-standing genetic variation rather than recent rapid mobilization.
By integrating ATAC-seq, molQTL, and GWAS data across 202 porcine skeletal muscle samples, this study reveals distinct developmental shifts in chromatin accessibility between fetal and postnatal stages, identifying stage-specific regulatory variants that prioritize causal mechanisms for agronomically important traits.
This study validates an optimized workflow for generating accurate, genome-wide polymorphism datasets from individual, minute hookworm larvae using whole-genome amplification, enabling the detection of reduced genetic diversity and distinct population structures in laboratory strains compared to field-collected samples.
This study constructs a reference-free Simmental cattle pangenome from five high-quality haplotype-resolved assemblies to identify crossover events at basepair resolution, demonstrating that integrating structural variants and long-read methylation data with phased SNPs enables the detection of recombination events beyond traditional SNP markers.
This study reveals that the population structure and evolutionary history of the bacterial leaf blight pathogen *Xanthomonas oryzae* pv. *oryzae* in Africa were shaped by the independent domestication of African rice (*Oryza glaberrima*) and its subsequent replacement by Asian rice (*Oryza sativa*), driving distinct genetic diversification and host adaptation mechanisms in the pathogen.
This study demonstrates that ultra-conserved CpG dinucleotides, which are enriched in brain-expressed genes and developmental pathways, co-localize with age-related differentially methylated regions, thereby linking functional components of DNA methylation ageing to conserved developmental mechanisms.
This study demonstrates that using donor-specific assemblies significantly enhances the detection of somatic structural variants in complex and repetitive genomic regions compared to linear reference genomes, thereby improving the identification of cancer-associated mutations.
This study elucidates the conserved regulatory mechanisms governing fruit shape in peach and apple by demonstrating how Ovate Family Proteins (OFPs) interact with brassinosteroid signaling and microtubule dynamics to orchestrate distinct flat versus oblong phenotypes, thereby providing a refined framework for breeding fruit morphology in Rosaceae crops.
This study utilizes nanopore sequencing to reveal substantial genomic and epigenomic variability between MCF-7 breast cancer sublines, highlighting significant differences in structural variants, single-nucleotide variants, and allele-specific DNA methylation patterns that affect key cancer driver genes and transposable elements.
Through the community-driven manual curation of over 7,500 gene models in *Pristionchus pacificus*, this study highlights critical limitations in current automated annotation pipelines—such as assembly errors, artificial transcript fusions, and homology-based error propagation—and offers valuable insights to improve future genome annotation efforts across diverse species.