Discover, rate, and discuss biology preprints.

The paper identifies novel endogenous retroviral loci in junglefowl species using whole-genome sequencing and classifies them into different families and subtypes.

This study examines how humanized nucleosomes in yeast affect chromatin structure, replication, and rDNA stability, revealing species-specific impacts on nuclear organization and function.

The paper identifies clinically relevant variants in poison exons (PEs) that improve diagnostic yield for neurodevelopmental disorders by uncovering variants previously overlooked in standard analyses.

The paper uses ATAC-seq to analyze chromatin accessibility across four tissues in eight Drosophila melanogaster genotypes, identifying polymorphic regions and candidate causal variants after correcting for structural variants.

The paper identifies SUMO-SIM interactions as essential for HIRA recruitment to PML NBs and shows PML NBs regulate HIRA distribution and H3.3 deposition at ISGs during IFN-I response.

This study uses multi-trait analysis to identify novel genetic loci for smoking behaviors by leveraging alcohol use disorder GWAS data from the Million Veteran Program.

This study identifies modifiable factors and epigenetic markers associated with adiposity in adolescents from Hong Kong using EWAS and EWAS.

The paper examines the association between clonal hematopoiesis and Parkinson's disease using whole exome sequencing data from controls and patients.

This study compares PCA and LMM in genetic association models, finding LMM outperforms PCA, especially in handling complex relatedness and environmental effects in multiethnic human data.

The paper reviews how MIKCC-type MADS-domain transcription factors recognize target genes through different mechanisms, including dimer formation and heterotetramer binding to CArG-boxes.

The paper identifies local genetic sex differences in quantitative traits using UK Biobank data, showing that sex-dimorphic effects are common and that the scale of genetic effects impacts heritability interpretations.

The paper investigates how SCN1A variants in a poison exon cause aberrant splicing, reduced Nav1.1 protein, and epilepsy through RBP interactions.

The paper combines computational and experimental methods to identify CNG repeat loci potentially linked to spinocerebellar ataxias, finding polymorphic patterns and expression in brain-related genes.

This paper introduces a multi-network gene prioritization method for Alzheimer's Disease that complements mQTL-based approaches, showing significant concordance in prioritizing risk genes.

This study shows that a specific type of hearing loss in mice can be reversed by reactivating the Spns2 gene within a critical period, restoring auditory function and protecting hair cells.

This study identifies vgll3 as an antagonistically pleiotropic gene in turquoise killifish, showing it accelerates growth and reproduction but increases late-life disease risk and mortality.

The paper introduces GenIE-ATAC, a medium-throughput method to screen regulatory variants' effects on chromatin accessibility, validating causal variants and extending analysis tools.

The paper proposes a joint statistical test that integrates association evidence with Hardy-Weinberg disequilibrium differences between case and control groups to improve detection of disease susceptibility loci.

The paper develops a high-throughput functional assay to assess the impact of 1,570 OTC missense variants, improving variant interpretation using ACMG/AMP guidelines.

A GWAS identified 20 rare genetic variants associated with better processing speed in the Long Life Family Study, replicated in Danish twin cohorts.