Discover, rate, and verify biology preprints.

LRCP: identifying functionally related SNPs and genes from phenome-wide genetic-effect correlations using GWAS summary statistics

LRCP identifies functionally related SNPs and genes by estimating phenome-wide genetic-effect correlations from GWAS summary statistics, improving accuracy over naive methods.

Novel Regulators of Sugar-dependent Food Consumption in Drosophila melanogaster

This study identifies genetic regulators of sugar-dependent food consumption in Drosophila using GWAS and RNAi knockdown.

Removal of maternal compensation reveals retinal-specific roles for Pomgnt1 in zebrafish

This study shows that removing maternal compensation in zebrafish reveals retinal-specific roles for Pomgnt1, with retinal abnormalities appearing early and behavioral changes observed.

Making sense of chaos: replication and segregation defects in the yeast mcm4Chaos3 mutant

The paper investigates the mcm4Chaos3 mutation in yeast, showing it causes genome instability by impairing specific centromere-proximal origins.

Marked Mutants Allow for Rapid Non-Invasive Genotyping of Zebrafish by Visual Inspection Alone

This paper introduces a method to rapidly genotype zebrafish mutants using visual inspection by inserting fluorescent markers into target genes, enabling non-invasive identification of genotypes.

Sedimentary ancient DNA analysis from the Iron Age courtyard and cooking pit site of Rodskjaer in Troms, Northern Norway

This study uses sedimentary ancient DNA metabarcoding to analyze Iron Age courtyard and cooking pit sites, identifying plant and animal taxa and highlighting challenges from bioturbation and root penetration.

Genetic diversity and population structure of Ethiopian taro Colocasia esculenta (L.) Schott) as revealed by SSR markers

This study assesses genetic diversity and population structure of Ethiopian taro using SSR markers, finding low diversity at individual loci but high multilocus genotypic diversity and weak genetic differentiation among populations.

Dissecting Genetic Variability and Multi-Trait Performance in Cucumber

This study evaluates 18 cucumber genotypes across two seasons for multiple traits to identify high-performing varieties with stable multi-trait performance.

The mouse Cdh23ahl allele drives early cochlear dysfunction and phenotypic heterogeneity before progressive hearing loss

This study shows the Cdh23ahl allele causes early cochlear dysfunction and phenotypic variability in mice before progressive hearing loss, with altered mechanoelectrical transduction and transcriptional changes.

GxE and changes to the genetic architecture of flowering time in an overwintering environment

This study examines how genetic architecture of flowering time in Arabidopsis thaliana changes between overwintering environments and growth chambers, finding extensive gene-by-environment interaction and environment-specific genetic effects.

Deep-intronic variants in USH2A: the importance of model selection in variant interpretation and pathogenicity assessment

The paper evaluates two USH2A variants using minigene assays and zebrafish models, finding that one variant may be benign and the other not pathogenic.

Classical guinea pig coat phenotypes are associated with variants in FGF5 and CELSR1

This study identifies genetic variants in FGF5 and CELSR1 associated with long and rough coat phenotypes in guinea pigs, revealing distinct molecular mechanisms.

A multi-tissue RNA-seq atlas of adult medaka (Oryzias latipes) under salinity and winter-summer sampling contrasts

The paper generates a multi-tissue RNA-seq atlas of adult medaka under salinity and seasonal contrasts to study gene-expression plasticity and comparative biology.

Mapping, stacking and characterization of a novel resistance haplotype against GpaVvrn-virulent Globodera pallida derived from wild potato relative Solanum brevicaule

The paper identifies and characterizes a novel resistance haplotype, GpaXIbrc, from Solanum brevicaule that enhances resistance to G. pallida and demonstrates its effectiveness when stacked with other resistance haplotypes.

The genetic architecture of human DNA methylome variation

This study develops pangenome-based frameworks to analyze DNA methylome variation across diverse human genomes, identifying genetic factors influencing methylation patterns and their associations with complex traits.

Cellular context shapes the transcriptomic impact of somatic variants

The paper shows that somatic variants' transcriptomic impact depends on cellular context, not just sequence, using single-cell transcriptomics and new tools.

Multiple domains of Mata1 transcription factor contribute to binding site specificity

The paper identifies that multiple regions of the Mat1 transcription factor contribute to DNA-binding specificity across species.

Beyond a single threshold: calibration of CADD v1.7 and AlphaGenome for ACMG/AMP computational evidence across variant classes, model versions, and reference data

This paper calibrates CADD v1.7 and AlphaGenome AVI for ACMG/AMP computational evidence across variant classes, showing AVI outperforms CADD and highlights the need for class-specific thresholds.

Genetic and Epigenetic Landscape of Self-Identified Hispanics/Latino in All Of Us

The paper analyzes genetic variation, ancestry, and DNA methylation in Hispanic/Latino participants using long-read sequencing, identifying novel variants and phenotype associations.

Unravelling genomic and environmental contributions to nitrogen-use efficiency in tropical maize through Bayesian causal forests

This paper uses Bayesian causal forests to estimate the causal effect of nitrogen levels on maize traits, finding that environmental factors largely drive trait variation while genomic background influences baseline levels.