Discover, rate, and verify biology preprints.

Genetic control of the transcriptional response to active tuberculosis disease and treatment

The paper identifies cis-eQTL and reQTL in TB patients during treatment using RNA-seq data and variant imputation, showing changes in cell type proportions and gene expression.

When Does Reaction Norm GWAS Discover Plasticity? The Residual Channel in Environmental Index-Based Genetic Dissection

The paper shows that using climate-derived indices in GWAS to detect phenotypic plasticity is flawed, as the index's correlation with environmental means limits the ability to detect plasticity-specific genetic variation.

Scalable single-cell isoform profiling with sequencing-by-expansion

This paper introduces a high-throughput single-cell RNA isoform sequencing method using sequencing-by-expansion (SBX) and the CUDLL algorithm, achieving high accuracy and enabling isoform-level analysis across cell types.

Genetic effects of plant plant interactions depend on neighbor identity and environmental context

The paper investigates how genetic variation in common bean affects plant-plant interactions with maize, showing that effects depend on neighbor identity and environmental context.

Shared QTLs underlie loss of a conserved trait in replicate mapping populations of Arabidopsis thaliana

The paper identifies shared QTLs for stamen number, ovule number, and flowering time in Arabidopsis thaliana RILs, showing some QTLs are consistent across crosses while others are unique.

Genetic association meta-analysis is susceptible to confounding by between-study cryptic relatedness

This paper shows that meta-analysis of GWAS can be biased by cryptic relatedness between studies, especially in family-based datasets, and recommends avoiding such analyses.

Chromatin state shapes site-specific A-to-I RNA editing

The paper identifies chromatin state regulators that influence A-to-I RNA editing frequency across species and tissues.

Divergent Pathogenic PR-DUB Complex Variants Converge Functionally Via PRC2 Displacement From Chromatin

The paper shows that pathogenic PR-DUB complex variants reduce H2AK119ub1 levels by stabilizing truncated ASXL1, leading to PRC2 displacement and H3K27me3 reduction, a phenotype shared across different chromatinopathies.

Transcription-dependent heterochromatin at the Xist promoter shapes the random choice of the inactive X chromosome

The paper identifies H3K9me3 accumulation at the Xist promoter as a transcription-dependent mechanism that influences random XCI choice in female cells.

TMRCA is observable from the branch lengths of a coalescent

The paper develops a model-free estimator for the product of genealogical tree height and scaled mutation rate using site frequency spectra, showing it is unbiased and performs better than tree height averaging in simulations.

LIN-23 Affects C. elegans Pathogen and Stress Resistance by Modulating SKN-1 Activity

This study identifies LIN-23 as a positive regulator of SKN-1 activity in C. elegans during pathogen exposure, showing it modulates WDR-23 to enhance stress resistance.

From long-term progeny trials to genomic selection: empirical prediction and simulation-guided redesign of Scots pine breeding in Germany

This paper evaluates genomic selection strategies for Scots pine breeding using long-term progeny trials and simulations, finding that genomic selection with phenotypic thinning provides the highest annual gains for certain traits.

Patient-specific zebrafish models reveal a complex phenotypic spectrum in NBAS-associated Atypical Osteogenesis Imperfecta

The paper uses zebrafish models to study NBAS variants in atypical Osteogenesis Imperfecta, showing different phenotypes based on variant type.

Comprehensive Mapping of SGCA Variant Effects Reveals Domain-Specific Constraints Relevant to Sarcoglycanopathies

The paper systematically evaluates SGCA variant effects using saturation mutagenesis to distinguish functional and non-functional variants, revealing domain-specific constraints in sarcoglycanopathies.

Population Genetic Structure of Ariolimax columbianus around Corvallis, Oregon, USA

This study examines the population genetic structure of Ariolimax columbianus around Corvallis, Oregon, using CO1 and ITS-2 sequencing, revealing genetic breaks potentially caused by anthropogenic and natural factors.

Characterization of NPR-14 in the Regulation of Sleep-Like Behaviour in Caenorhabditis elegans

This study identifies NPR-14 as a wake-promoting GPCR in C. elegans that inhibits EGL-4/PKG signaling to regulate sleep-like quiescence and arousal.

Paralogous lncRNAs CYTOR and MORRBID share a conserved trans acting function in MEK ERK signaling

The paper shows CYTOR and MORRBID lncRNAs share a conserved trans-acting function in MEK-ERK signaling, despite transcriptional divergence.

Programmed chromosome elimination correlates with the overexpression of cohesin and additional B chromosome-encoded genes in Aegilops speltoides

The paper identifies genes and mechanisms involved in programmed chromosome elimination in Aegilops speltoides, focusing on B chromosome-encoded cohesin and centromere-related factors.

Targeted modulation of IGFBP5/IGF1, THPO, and P38 MAPK signaling are potent therapeutic strategies generalizable for mitochondrial respiratory chain disease and osteosarcoma

The paper identifies THPO, IGF1, and MAPK as therapeutic targets for mitochondrial respiratory chain disease and osteosarcoma, showing their modulation can replicate the benefits of CHX treatment.

Human length telomeres restrict the regenerative potential of hematopoietic stem cells in mice

The paper shows that human-length telomeres in mice restrict hematopoietic stem cell regenerative potential under stress conditions.