415 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 reveals a strong correlation between amino acid frequency and codon degeneracy across all domains of life and viruses, suggesting that the genetic code initially evolved to match amino acid demands before later evolutionary pressures caused deviations from this pattern.
This study presents the first high-quality, telomere-to-telomere genome assembly of the Critically Endangered *Eucalyptus recurva*, revealing that despite extreme demographic bottlenecks, the species retains significant genomic heterozygosity and providing a vital resource for its conservation and evolutionary research.
This study integrates single-nuclei multiomics data from four human brain regions to identify specific neural cell populations and regulatory mechanisms that mediate the genetic risk for various brain-related traits, including psychiatric disorders and Alzheimer's disease.
Researchers discovered a nearly complete chromosome of the bacterial pathogen *Rickettsia africae* integrated into the genome of its tick vector, *Amblyomma variegatum*, highlighting the need to distinguish such lateral gene transfers from active infections when screening for pathogens.
By applying a deep-learning-based metabolic inference framework and prime-editing lineage tracing, this study reveals that folate deficiency disrupts a transient neural lineage state by impairing the coupling of bioenergetic pathways and de novo purine biosynthesis, ultimately causing permanent dorsal-ventral morphological defects in the developing neural ectoderm.
This study analyzes genomic and educational data from over 13,000 Germans born between 1918 and 1995 to find that while polygenic indices for educational attainment have modestly strengthened across recent birth cohorts without regional differences, they remain less predictive for women and show distinct patterns for intergenerational mobility between East and West Germany, highlighting both the utility and normative limitations of genetic research in assessing social equality.
The paper introduces GAVURD, a novel system that leverages trio whole-genome sequencing and topologically associated domain (TAD) data to systematically prioritize and identify putative pathogenic non-coding variants in patients with unresolved rare diseases, successfully implicating six causal candidates in a proof-of-concept study.
This paper introduces BALT-seq, a unified, enzyme-free chemoselective strategy that enables efficient, one-step profiling of hydroxymethylcytosine in both DNA and RNA by installing a biotin-thioether handle under mild acidic bisulfite conditions.
The paper introduces Epi-PoreC, a novel Oxford Nanopore-based method that simultaneously profiles chromatin conformation, DNA methylation, and chromatin accessibility on individual DNA molecules within a single assay.
This study demonstrates that high carrier rates of Familial Mediterranean Fever mutations in Armenians resulted from positive selection driven by resistance to *Yersinia pestis* (plague), with allele frequencies rapidly increasing since the first plague pandemic around 541 CE.