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 that a machine learning classifier analyzing 4-mer end motif profiles of cell-free DNA from routine first-trimester NIPT samples can accurately predict spontaneous preterm birth with high sensitivity and specificity, offering a non-invasive method to identify at-risk pregnancies without additional testing.
This study reveals that lineage-specific turnover of DNA transposon families, rather than class-level changes, drives genome variation and adaptation in *Hermetia illucens*, while demonstrating that multi-genome repeat libraries significantly improve the detection and classification of transposable elements and their associated structural variants compared to single-reference approaches.
This study characterizes the unique small RNA pathways in the invasive zebra mussel, revealing a modified siRNA machinery that nonetheless supports dsRNA-induced gene silencing, thereby establishing a foundation for developing RNAi-based tools to manage this damaging species.
The paper introduces PerturbMatch, a statistical framework that leverages guide multiplets (doublets and triplets) in Perturb-seq experiments to significantly reduce per-cell costs and increase statistical power while maintaining signal recovery comparable to technical replicates.
This study analyzes whole-genome sequencing data from 529 ancient individuals across three northern European sites and finds no evidence that the second plague pandemic drove strong positive selection on protective genetic variants, but instead reveals a significant reduction in long-range immigration and ancestry diversity following the pandemic's arrival, coinciding with the end of the Viking Age, Christianisation, and the onset of the Little Ice Age.
This study reveals that the divergent post-cessation risks of lung cancer subtypes are driven by distinct regenerative dynamics, where persistently mutated alveolar progenitor cells maintain adenocarcinoma risk while near-normal basal stem cells expand to protect against squamous cell carcinoma.
This study demonstrates that schizophrenia-associated DNA methylation differences in the prefrontal cortex are highly specific to neurons and largely masked in bulk tissue analyses, implicating neurodevelopmental and synaptic pathways through cell type-resolved epigenome-wide association studies.
This paper presents the first chromosome-level, haplotype-resolved reference genome assembly for the European moose (*Alces alces*), featuring two high-quality pseudo-haplotypes with near-complete BUSCO scores and extensive gene annotation.
By constructing a genetic map of the nematode *C. inopinata*, this study demonstrates that despite the species' atypical uniform distribution of repetitive elements and genes, recombination rates remain partially conserved and are largely decoupled from these genomic features, challenging the assumption that recombination variation solely drives such chromosomal organization.
The authors present FIND, a freely available web tool that identifies population-enriched pathogenic variants in the gnomAD database by detecting alleles with significantly higher frequencies in specific ancestry groups, thereby facilitating the discovery of founder mutations and population-specific disease burdens, including in historically underrepresented populations.