Discover, rate, and verify biology preprints.

POISE: Spectral Inference of Parent-of-Origin Effects in Unlabeled Genomic Data

POISE infers parent-of-origin effects in unlabeled genomic data using spectral decomposition and bootstrap confidence intervals, identifying 134 new variants in lipid metabolism and immune regulation from UK Biobank data.

The Gene Version Iteration Hypothesis reveals the Y chromosome-mediated closed-loop transmission and version selection mechanism of mutated genes

The paper proposes the Gene Version Iteration Hypothesis, suggesting mutant genes may cycle through chromosomes via the Y and X chromosomes, enabling version selection and evolutionary dynamics.

TOMM40 '523' genotype induces sex- and tissue- specific differences in cholesterol and triglyceride levels in an APOE-TOMM40 humanized mouse model

The paper investigates how TOMM40 523 poly-T variants affect lipid levels and AD biomarkers in a humanized mouse model, finding sex- and tissue-specific differences.

Use of a plasmid containing a dual gene reporter system to assess the cell hydrophobicity of Listeria monocytogenes

This study uses a dual gene reporter plasmid to assess the hydrophobicity of Listeria monocytogenes strains by monitoring their attachment to solvents.

Robust Inference of Individualized Treatment Effect in Mendelian Randomization

This paper develops a robust method for inferring individualized treatment effects in Mendelian randomization, showing improved coverage and shorter intervals compared to existing methods.

Two SID-1-dependent genes sensitive to heritable epigenetic changes can also impact reproduction

The paper identifies two SID-1-dependent genes in C. elegans that influence reproduction and show transgenerational effects when altered.

Buried in two places: Lineages from elite Maya tombs also found in distant caves

The paper analyzes genetic data from Maya tombs and caves to show that elite lineages extended their ancestral connections across distant locations.

Outbred Drosophila populations reveal diet-dependent genetic effects on development time

The paper identifies diet-dependent genetic loci affecting development time in Drosophila using outbred populations and phenotyping.

Duplication of superoxide dismutase and a mutation in aquaglyceroporin mediates the sensitivity of Plasmodium falciparum to cryptosporin, a natural product derived from Acaromyces ingoldii

This study identifies a mutation in PfAQP and duplication of superoxide dismutase genes as mechanisms of resistance to cryptosporin in Plasmodium falciparum.

eQTM (expression quantitative trait methylation) Atlas: a comprehensive resource of over 11 million DNA methylation-gene expression associations through across 11 tissues and 4 diseases

eQTM Atlas, an R Shiny resource, curates over 11 million DNA methylation-gene expression associations from eight cohorts and 11 tissues to annotate EWAS CpGs beyond proximity.

Inference of elevated mutation rates and variant effects using 700k exomes

The paper estimates mutation rates and variant effects using 700k exomes to identify genes with mutational hotspots and improve variant prioritization for genetic diagnostics.

Somatic CRISPR editing of Msh3 mitigates Huntington's disease pathology in mice

This study shows that knocking out Msh3 in mice with Huntington's disease slows CAG expansion and reduces pathology, with earlier intervention being more effective.

Host genetic regulation of fermentation-related cecal microbial taxa is associated with loin muscle deposition in meat rabbits

The paper identifies host genetic and microbial factors associated with loin muscle weight in meat rabbits, finding links between cecal microbiota and host genes.

Separating direct, indirect and parent-of-origin genetic effects in the human population

The paper introduces JODIE, a model to estimate direct, indirect, and parent-of-origin genetic effects on height, BMI, and educational attainment using family trios from two biobanks.

Chromosome X Dosage Modulates Development of Aneuploidy in Genetically Diverse Mouse Embryonic Stem Cells

The paper identifies that X chromosome dosage influences aneuploidy development in mouse embryonic stem cells, with XO and XY lines showing higher aneuploidy rates than XX lines.

A conserved motif in Pch2 regulates its localization and meiotic function in Saccharomyces cerevisiae

The paper identifies a conserved threonine residue in Pch2 that regulates its localization and meiotic function in yeast by affecting checkpoint signaling and Hop1 dynamics.

Natural genetic variation spans all predicted Rh5/Rh6 expression phenotypes in Drosophila R8 photoreceptors

A genomic toolkit for surveillance and elimination of the principal malaria vectors in Southeast Asia.

The paper provides genomic resources for malaria vector surveillance in Southeast Asia, revealing population structure and resistance regions in Anopheles dirus.

Promfusion: a synthetic fusion promoter enabling enhanced and balanced photoreceptor transgene expression

The paper develops and evaluates two synthetic fusion promoters, Pikali and Nocchu, for enhanced and balanced transgene expression in both rods and cones of retinal organoids.

Local SNP-explained methylation variation reveals genetically anchored and exposure-associated methylation architecture in the human brain

The paper uses SNP-based modeling to classify methylation variation in the human brain, revealing genetically anchored and exposure-associated patterns in an underrepresented population.