Discover, rate, and discuss biology preprints.

The paper introduces Blockbuster, a program that infers recent population demography from genome-wide SFS, achieving theoretical limits and outperforming existing methods.

This study shows that L-2HG accumulation due to L2HGDH deficiency impairs neuronal differentiation by epigenetically activating MYC, leading to stem cell self-renewal and reduced neuron formation.

The paper shows that loss of Hippo signaling components yap1 and wwtr1 causes transdifferentiation of neural retina at the optic fissure, leading to coloboma.

The paper investigates the nuclear composition of fungal spores in Botrytis cinerea and Neurospora crassa, finding evidence that multiple nuclei are mitotic copies rather than sharing a single haploid set of chromosomes.

The paper identifies a compensatory mutation, Tofu, that rescues fertility in Drosophila with null BEAF mutations by affecting rib expression.

The paper shows that the ATPase function of DPY-27 in C. elegans is essential for dosage compensation by enabling DNA binding, X-chromosome condensation, and H4K20me1 enrichment.

The paper introduces ENGINE, a method to infer gene-environment interactions from large-scale biobank data, finding that combining multiple exposures increases detected GxE variance.

This study develops a mouse model of Ppm1d mutations in gliomas, showing they deregulate the p53 pathway, promote gliomagenesis, and increase radiosensitivity and PARP inhibitor vulnerability.

This paper introduces a stability-guided fine-mapping approach that complements residualization, showing it enhances functional variant identification in eQTL analysis.

This study corrects a common pathogenic variant in MMA using adenine base editing in hepatocytes, showing efficient in vitro editing with minimal off-target effects.

The paper establishes frequency criteria for secondary findings genes to improve variant classification consistency by setting disease allele frequency thresholds for 58 monogenic disease entities.

This paper shows that Spt5's KOW domains and the Pol II stalk work together in yeast to regulate transcription termination and chromatin structure.

This study identifies Putzig's dual role in Piwi-mediated transposon silencing in Drosophila female germline by facilitating piRNA precursor transcription and co-transcriptional heterochromatin formation.

This study identifies three genetic groups in Pacific cod in Japanese waters using SNPs and shows that outlier SNPs improve stock identification accuracy.

This study shows that nucleosome positioning suppresses cryptic antisense transcription in fission yeast, with CHD1-family remodelers and the PAF complex playing a key role.

The paper applies a Sire MGS model to partition genetic variance into paternal and maternal components for lifetime productivity in tropical dairy cattle, finding significant maternal contributions.

Rosalind, a DNA foundation model, predicts variant-gene regulatory relationships without proximity bias, identifying distal genes as more impactful in osteoporosis.

The paper investigates the phenotypic impact of mutations in PipY, a PLPBP, in Synechococcus elongatus, revealing PLP-independent functions for PipY.

This study investigates how ZC3HC1 deficiency affects vascular smooth muscle cell behavior and neointima formation using in vitro and in vivo models.