414 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 paper presents a strategy to mitigate genotype-driven bias in atlas-scale single-cell DNA methylome profiling by masking variant positions, which effectively reduces donor-associated confounding effects and improves the accuracy of downstream analyses in pooled experimental designs.
The paper introduces cit_gsa, a novel one-step self-contained gene set differential expression analysis method for single-cell RNA-seq that supports complex multi-condition comparisons and covariate adjustment, demonstrating superior performance and improved biological interpretation compared to existing two-step approaches.
This study benchmarks short-read whole genome sequencing structural variant callers against high-quality truth sets, revealing that individual tools often outperform ensemble pipelines and demonstrating that a novel intra-sample merging strategy significantly improves accuracy, thereby establishing a foundation for robust standards in SV analysis and database construction.
Cross-species analysis reveals that the unusually high germline mutation rates in spliceosomal snRNA genes are primarily driven by lineage-specific APOBEC3 activity rather than R-loop formation alone, as evidenced by strong mutational signatures and binding signals in primates but not in rodents or chickens.
This study identifies a human-specific CCG-repeat insertion in the *RBFOX1* promoter that enhances EGR1-responsive activity and drives differential expression in cortical neurons, suggesting that such small regulatory variants contribute to human-specific traits like speech and susceptibility to autism.
This study reveals that keratoconus is driven by a genetic susceptibility shared with corneal thickness and resistance that specifically targets extracellular matrix mechanics, resulting in a distinct corneal state characterized by reduced inflammatory and immediate-early gene expression.
This study presents the first chromosome-level genome assembly of the invasive chilli thrips, *Scirtothrips dorsalis*, providing a 266.5 Mb reference with 16 scaffolds, 20,557 genes, and a resolved species tree that clarifies its phylogenetic relationships and mitochondrial genome structure.
This study utilizes single-nucleus multi-omics on skeletal muscle biopsies from heart failure with preserved ejection fraction (HFpEF) patients to identify specific cellular and molecular remodeling signatures associated with exercise intolerance and demonstrates that these pathological changes are partially reversible through supervised diet and exercise interventions.
By integrating Oxford Nanopore long-read sequencing with a novel computational framework called EpiFLAIR, this study demonstrates that nucleosome positioning across entire chromatin fibers coordinates transcriptional fidelity and alternative isoform expression in yeast, revealing how the loss of chromatin remodelers ISW1 and CHD1 disrupts the anticorrelation between promoter and gene-body accessibility to alter transcription initiation, elongation, and splicing.
This study utilizes genomic sequencing to reveal that three co-occurring sea snake species across northern Australia and New Caledonia share major broadscale genetic breaks and historical connectivity patterns, while also exhibiting species-specific isolation-by-distance and distinct genetic profiles in isolated reef and disjunct populations, thereby supporting a conservation strategy based on shared phylogeographic units alongside finer-scale population considerations.