Discover, rate, and discuss biology preprints.

The paper shows that a hypomorphic mutation in RPA subunit rfa1-t33 in yeast enhances APOBEC-induced mutagenesis and alters mutation spectra.

The paper identifies and evaluates ancestry informative markers (AIMs) for the Middle East using whole-genome sequencing data and a deep learning tool for ancestry visualization.

This study establishes a Drosophila model of ECHS1 deficiency and shows that valine restriction improves larval survival.

The paper introduces a de-biased sparse canonical correlation analysis pipeline to identify cancer-related trans-regulated genes from multi-omic data, finding 256 genes associated with estrogen receptor-related CNAs in breast cancer.

This study evaluates the impact of two QTLs on wheat yield traits at the plot level, finding significant yield increases from QFFE.perg-5A and environment-dependent effects from QFEm.perg-3A.

WheresWalker is a mutation mapping pipeline that rapidly identifies mutation-containing intervals in whole genome sequencing data, validated in zebrafish and maize.

This study identifies pleiotropic variants and trait-specific susceptibility variants using GWAS data from 116 traits, revealing widespread pleiotropy and unique genetic contributions to specific traits.

The paper detects ErbB2 mutations in male germline using error-corrected sequencing, finding age-related accumulation and early mutational enrichment in young donors.

The paper describes an undergraduate-led project using CRISPR/Cas9 to generate orange-eyed GAL4 lines in Drosophila by modifying the eye color phenotype of existing GAL4 lines.

The paper compares microsatellite instability in colorectal carcinomas from MSH6-associated Lynch syndrome patients to other MMR-deficient groups and sporadic MSI CRCs, finding lower MSI in MSH6-mutated tumors.

The paper identifies region-specific laminar gene expression patterns in language-related cortical areas and links them to structural connectivity and dyslexia risk.

This paper introduces a method to align single-cell RNA data across species and tissues using adversarial learning, revealing common cell types like macrophages and fibroblasts.

The paper uses long-read RNA-seq to study splicing changes in an Alzheimer's mouse model, identifying novel transcript isoforms and alternative splicing events in response to amyloid-beta.

The paper assesses genetic health across Indian rhino populations to inform translocation strategies and management solutions for long-term survival.

The paper identifies functional regulatory SNPs in SLE risk loci by testing their impact on transcription factor binding and gene expression.

The paper investigates testicular mosaicism in non-mosaic Klinefelter Syndrome patients, finding that spermatogonia are euploid while surrounding Sertoli cells show karyotype differences between prepubertal and postpubertal stages.

This study uses CUT&Tag-Direct to analyze histone modifications in microglia across brain regions, revealing region-specific transcriptional networks and epigenetic signatures.

This study shows BRCA1/BRC-1 and SMC-5/6 regulate DNA repair pathways during C. elegans meiosis, limiting intersister crossover and error-prone repair.

The paper improves whole genome sequence quality using pedigree information and reference genotypic profiles, demonstrating the approach in apple genomes.