Discover, rate, and discuss biology preprints.

The paper extends gene set enrichment analysis using likelihood ratio tests to identify VEGF as a pathway associated with Alzheimer's disease biomarkers and cognitive status.

This study evaluates the efficacy and immunogenicity of the AAV.GT5 vector for hemophilia B gene therapy in pigs and macaques, finding improved transduction and reduced immunogenicity compared to AAV-Spark100.

The paper identifies EZH2 as a key regulator of ISL1 during urinary tract formation and links ISL1 dysregulation to classic bladder exstrophy.

This study identifies Kar4 as a key component of the yeast mRNA methyltransferase complex required for both mating and meiosis, with distinct functional roles in these processes.

This study maps genetic causes of hybrid incompatibility in monkeyflowers across generations, identifying structural and genic incompatibilities that reduce hybrid viability.

The paper identifies a multi-protein interaction interface in the C. elegans synaptonemal complex through a suppressor screen, showing its role in stabilizing chromosome interactions.

This study evaluates XNA-DNA-ASO sequences for enhancing SMN protein expression and cell viability in SMA fibroblasts, showing improved stability and reduced toxicity compared to conventional ASOs.

The paper introduces a phenotype-genotype reference map for replicating GWAS results in biobank data and demonstrates its utility in detecting data corruption and assessing reproducibility.

The paper identifies a nematode gene acquired via horizontal gene transfer from bacteria that enhances stress resilience by enabling L-rhamnose biosynthesis for cuticle integrity.

The paper identifies a conserved intergenic region in Fusarium graminearum suitable for targeted integration, develops a cloning system, and validates its utility for gene studies and protein secretion analysis.

This paper identifies two disulfide-reducing pathways required for cytochrome f maturation in Chlamydomonas reinhardtii, with CCS4 playing a dual role in stabilizing CCDA and participating in a CCS5-independent pathway.

This study identifies a novel adp loss-of-function mutant in Drosophila and shows it does not affect brain growth despite changes in lipid metabolism.

The paper presents T2T-YAO, a telomere-to-telomere diploid reference genome for a Han Chinese male, offering improved haplotype resolution and genetic diversity compared to T2T-CHM13.

The paper introduces a nonparametric test for detecting genetic similarity between traits using GWAS summary statistics, showing improved performance in small-sample contexts compared to existing methods.

The paper investigates two DNA repair pathways in yeast and shows they contribute to mutagenesis when error-free repair is compromised.

This study analyzes the genetic diversity and phylogeography of Sri Lankan cattle breeds, finding strong relationships with South Indian Hallikar cattle and significant taurine admixture in two breeds.

The paper identifies a frameshift mutation in Pkhd1 causing a cystic liver phenotype in mice and shows alternative splicing leads to reduced Pkhd1 protein levels and attenuated renal cystic disease.

This study identifies hemin as an anti-aging agent that extends cellular lifespan through the AMPK pathway and synergizes with rapamycin in human and yeast models.

FastKAST detects non-linear genetic effects on traits in large datasets by providing efficient kernel-based tests with calibrated hypothesis testing.

This paper introduces TCSC, a method to identify tissue-specific disease contributions by distinguishing causal tissues from tagging tissues using GWAS and gene expression data.