Discover, rate, and discuss biology preprints.

The paper constructs a pangenome of threatened mink subspecies to identify adaptive signatures and evolutionary history using genome assemblies and functional analysis.

This study evaluates Oxford Nanopore Technology for whole-genome sequencing of Staphylococcus aureus isolates, comparing its performance to Illumina in detecting clinically relevant genes and variants.

This study examines how prenatal air pollution exposure affects DNA methylation in cord blood and its link to childhood wheeze, finding some epigenetic changes are partially buffered by maternal diet.

SPrUCE estimates genetic diversity from UCE data by correcting underestimation bias using a Gompertz function model, providing accurate results comparable to whole-genome methods.

SnakeHichipTF decodes TF logic in enhancer-promoter wiring in human brain regions, revealing distinct regulatory programs and evolutionary elements.

BioWorldModel predicts phenotype from genotype across four kingdoms by modeling biological processes, achieving higher accuracy than traditional methods.

BloodVariome identifies 259 genetic associations across 127 immune cell populations in 11,983 individuals, revealing fine-grained genetic compartmentalization of the immune system.

The paper introduces MystraColoc, a Bayesian algorithm for multi-trait colocalisation, showing improved performance in clustering genetic association signals across GWAS datasets.

This study shows UVA radiation causes mitochondrial DNA common deletion via ROS, while UVB causes it through a ROS-independent mechanism, identifying mtDNA CD as a biomarker for UVA-induced damage.

The paper analyzes DNA and metagenomic data from the 1978 Shroud of Turin samples, revealing human mtDNA lineages, microbial communities, and contaminants, while radiocarbon dating indicates repair events in the 16th and 17th centuries.

This study examines the transcriptional effects of cardiac-specific Gpx4 deletion in mice and compares them to human cardiomyopathy, identifying ferroptosis-related pathways involved in heart disease.

The paper uses a complete diploid human genome to study centromeric chromatin organization, revealing that DNA methylation regulates centromere structure and plasticity.

This study identifies a polyclonal-to-monoclonal evolutionary trajectory in lung squamous cell carcinoma using genomic and transcriptomic data, with implications for precision therapeutics.

X-Plat transforms expression and methylation data between microarray and sequencing platforms using polynomial regression, achieving lower RMSE than existing methods across multiple species.

This study identifies evolutionary pressures shaping genome size divergence between bacteria and eukaryotes by modeling replication time and information storage trade-offs.

The paper characterizes the genetic diversity and regulatory features of human-specific NOTCH2NL duplications using long-read sequencing and organoid models.

This study reconstructs the genome and karyotype evolution of Sesamum and related species, revealing hybridization events and genetic changes linked to metabolic specialization.

The paper presents a haplotype-resolved genome assembly of a bluethroat, revealing structural complexity in the MHC region.

The paper identifies off-target effects in CRISPRi Perturb-seq experiments by analyzing transcriptional similarity between on-target and off-target guide effects.