Discover, rate, and discuss biology preprints.

The paper presents L1Farm, a resource for comprehensive annotation of LINE-1 retrotransposons in human reference and individual genomes at high resolution.

The paper develops TAILVAR, a machine-learning classifier to predict the functional impact of stop-loss variants by integrating multi-omics features, and shows it outperforms existing tools.

This study identifies genetic loci regulating fatty acid levels in adipose tissue and links them to metabolic and cardiovascular traits.

The paper shows that unloaded Argonaute proteins in C. elegans are degraded by the ubiquitin-proteasome system, highlighting a quality control mechanism for small RNA-loaded Argonautes.

This study investigates challenges in case-only analysis using polygenic risk scores for gene-environment interaction detection, showing false positives due to model misspecification and collider bias in large biobanks.

The paper uses single molecule long-read sequencing to analyze transcriptomes in heart failure patients and controls, identifying novel isoforms and convergent isoform changes across different cardiomyopathy types.

The paper identifies AvrPm4, a mildew effector recognised by the wheat resistance gene Pm4, and shows that virulent isolates evade resistance via SvrPm4, which suppresses AvrPm4-induced cell death.

This study shows that mutations in ZIP4-5B and MSH7-3D genes do not increase homoeologous recombination in hexaploid wheat hybrids, with ZIP4-5B alone being most effective.

The paper analyzes genetic differentiation in Anopheles funestus populations across Tanzania using microsatellites, finding moderate divergence and evidence of connectivity despite geographic separation.

This paper introduces a new causal inference method, the transmission mean test (TMT), for identifying genetic loci associated with child phenotypes using parent-child trio data.

The paper shows that inhibiting SUMOylation with TAK981 increases DUX4 expression in human muscle cells without affecting DNA methylation or SMCHD1 activity, suggesting a new therapeutic approach for FSHD.

The paper analyzes DNA repeat instability in 700,000 participants to identify genetic modifiers of repeat expansion and contraction rates and their clinical associations.

This paper identifies a six-nucleotide miRNA motif that represses PKD1 and shows that disrupting it improves PKD1 dosage and reduces cyst growth in ADPKD models.

This study identifies a single virulence locus in Globodera pallida that drives resistance breakdown in potato plants through negative selection on an avirulence gene.

This study shows that disrupting a Snca enhancer in mice reduces Snca expression and protects against Parkinson's disease pathology and motor impairments.

This paper develops a deep learning model called Performer to predict gene expression from personal genomes, achieving accuracy close to cis-heritability of most genes.

This study investigates how genomic inversions affect trait variation and the effectiveness of GWAS methods in detecting associations within inverted regions in Drosophila melanogaster.

The paper introduces sedimix, an open-source workflow for analyzing hominin nuclear DNA sequences from sediments, demonstrating high sensitivity and precision through simulations and comparisons to published studies.

The paper uses single nuclei RNA-sequencing to identify cell-type-specific gene expression dysregulation in the frontal cortex of an Angelman syndrome pig model.

This study evaluates airborne eDNA detection of Bennetts wallabies using active and passive samplers, finding active samplers and coarse filters improve detection, especially at short distances.