Discover, rate, and discuss biology preprints.

The paper uses long-read RNA sequencing to analyze CLN3 transcript complexity in healthy samples, identifying over 100 novel transcripts and 48 ORFs, with the canonical isoform being the most abundant.

This paper introduces molecular time capsules to capture and preserve transcriptomic data from living cells, enabling retrospective analysis of gene expression during cellular transitions.

This study identifies TAF4b's role in regulating transcription during quiescence of mouse prospermatogonia, showing it controls cell cycle genes and has sex-dependent and -independent effects on fertility.

This paper corrects a mouse model of phenylketonuria by transplanting Cypor-deficient hepatocytes selected with acetaminophen, achieving stable normalization of blood phenylalanine levels.

The paper identifies csr-1b as a novel regulator of the Integrator complex involved in snRNA 3' processing through RNAi screens and isoform analysis.

This paper presents a temperature-regulated Cas12a-based gene-drive system and demonstrates double gene drives using Cas9 and Cas12a to spread two engineered alleles.

The paper analyzes 500 whole genomes from 39 Tibeto-Burman populations to uncover genetic differentiation and adaptive features linked to geography and environment.

This paper presents a new high-quality reference genome for South American Plasmodium vivax isolates, showing improved representation compared to existing genomes.

The paper investigates DNA methylation patterns at the mating type locus MRP3 in diatoms, finding that hypomethylation is necessary but not sufficient for MRP3 expression in sexual cells.

The paper identifies male gonad-enriched microRNAs in C. elegans that regulate sperm production and fecundity through functional analysis and small RNA sequencing.

This study investigates movement disorders in argininosuccinic aciduria (ASA), finding they increase with age and show specific neuroimaging abnormalities not seen in mouse models.

This study investigates the specific roles of the AUTS2 long isoform in brain development and behavior, showing that its loss leads to distinct pathologies compared to mutations affecting both isoforms.

The paper identifies a SNP in the miR172 binding site of AP2L-D5 in wheat, associated with compact spike morphology and improved agronomic traits.

The paper investigates mutation patterns during double-strand break repair in yeast, finding that deletions and tandem duplications occur with specific microhomology preferences and structural constraints.

The paper predicts the functional effect of compound heterozygous genotypes using a yeast-based assay and a linear model applied to variant effect maps.

The paper analyzes population genomic data from Tasmanian giant kelp to identify genetic structure and loci associated with thermal tolerance.

This study identifies CFAP52 mutations as a cause of male infertility with sperm head-tail connection and flagella defects in humans and mice, showing CFAP52's role in sperm development and potential as a diagnostic target.

The paper identifies the RSX interactome in marsupials and shows functional coherence with the Xist interactome in XCI.

This paper shows that frequent, infinitesimal bottlenecks maximize microbial adaptation rates, challenging standard lab practices.

The paper investigates the genetic association of CYP1A2 variant rs762551 with caffeine-induced hypertension in Pakistanis and analyzes the variant's impact on CYP1A2 protein properties.