Discover, rate, and discuss biology preprints.

The paper tests for polygenic epistasis in biobank-scale data and finds 16 trait-loci pairs with strong evidence of interaction effects.

The paper investigates how mutations interact in diploid organisms, showing that epistasis and dominance are common, context-dependent, and change with system complexity and conditions.

The paper identifies shared genetic architecture across different types of clonal hematopoiesis and finds that overlapping mutations increase hematological malignancy risk.

This study identifies BARD1 germline variants associated with reduced BARD1 expression and DNA repair defects in neuroblastoma, showing haploinsufficiency and increased genomic instability.

The paper integrates genetic fine-mapping with multi-omics data to identify candidate effector genes and new drug targets for hypertension.

The paper reanalyzes hybridization frequency between European smooth and palmate newts using SNPs, finding low hybridization rates and suggesting microsatellites overestimate introgression.

This study differentiates WISP3-deficient and sufficient hPSCs into articular cartilage-like tissues, revealing transcriptomic and cellular differences linked to PPAC pathogenesis.

This study shows that interpreting TWAS results as evidence of genetic relationships between gene expression and phenotypes leads to inflated type 1 errors and unreliable conclusions.

The paper identifies the core gene set of Saccharomyces cerevisiae by analyzing 94 strains, revealing 5885 core genes and highlighting annotation issues and genomic variability.

The paper identifies an AluYb8 insertion in the 3'UTR of TMEM106B associated with increased dementia risk and shows it is shared across risk alleles.

The paper identifies genetic variants associated with plasma cortisol and cardiovascular disease, revealing gene networks in liver and adipose tissues regulated by corticosteroid binding globulin and the glucocorticoid receptor.

This study evaluates the comparability of cell-free DNA measurements using digital PCR across 12 laboratories, showing high technical accuracy for variant copy number and allele frequency.

This study identifies Rph7, a barley resistance gene against leaf rust, as a putative NAC transcription factor involved in basal defence activation.

This study shows curcumin extends the lifespan of aging postmitotic yeast cells with mitochondrial dysfunction, but not under conditions of mitochondrial dysfunction.

The paper uses genetic data to show sex-biased admixture patterns in South Africa due to colonial migration, with European males and Khoe-San females contributing disproportionately to different regions.

The paper analyzes the distribution of satellite DNA and telomeric repeats in Nothobranchius killifish species, revealing conserved satDNA patterns and insights into karyotype evolution and sex chromosome differentiation.

The paper identifies 151 p53-DREAM target genes associated with blood or brain abnormalities through transcriptomic analysis and ChIP-seq data.

This study evaluates how exon skipping efficiency by antisense oligonucleotides in DMD is influenced by intron retention time and AON position within the exon.

This study analyzes TE expression in Drosophila melanogaster during infections and finds that pathogen type has a larger effect on TE expression than host factors.

The paper analyzes complete mitogenomes from 60 Mexican Indigenous groups to reveal demographic history and shared genetic connections.