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Mapping the response of primary human chondrocytes to an osteoarthritis-relevant stimulus by single-cell RNA sequencing

This study uses single-cell RNA sequencing to analyze how fibronectin fragment treatment alters chondrocyte states and transcriptional programs in primary human cells.

Utilizing single-cell data for per-cell type eQTL mapping in the human pancreas

This study identifies cell type-specific eQTLs in the human pancreas using single-cell RNA-seq data and deconvoluted bulk RNA-seq data, revealing new genetic signals and associations with metabolic disease.

Single-cell profiling resolves gain- and loss-of-function mechanisms in CASR to advance mechanism-aware variant classification

The paper uses single-cell RNA-seq and machine learning to classify CASR variants as gain- or loss-of-function, achieving high accuracy and clinical validation.

Snurportin-1 maintains muscle niche integrity and myogenic progenitor homeostasis

This study identifies Snurportin-1 as critical for skeletal muscle homeostasis by linking RNA processing to extracellular niche integrity and myogenic progenitor maintenance using a zebrafish model.

A novel matrix multiplication framework for modeling genotype-by-environment interaction in genomic prediction

This paper introduces a matrix multiplication framework for genotype-by-environment interaction in genomic prediction, showing improved accuracy over traditional methods.

Transcriptional adaptation influences buffering among essential paralog gene families

The paper investigates transcriptional adaptation in paralog gene families using Perturb-seq, finding six paralog pairs show adaptation and identifying mechanisms like nonsense-mediated decay and nuclear import.

Linkage disequilibrium - equivalence of the correlation and probability approaches

The paper shows that the correlation measure r2 for linkage disequilibrium can be understood through probability methods, demonstrating equivalence between correlation and probability approaches in Wright-Fisher models.

The strength of a gene's first 5' splice site is a key determinant of its expression

The paper shows that the strength of a gene's first 5' splice site determines its expression level through intron-mediated enhancement, independent of 3' splice site strength.

Body size, dental pathology and maternal genetic diversity of ancient horses in the eastern Baltic Sea region and western Russia

This study examines body size, dental pathology, and maternal genetic diversity of ancient horses in the eastern Baltic Sea region and western Russia to better understand horse domestication timelines and patterns.

Generation of a transgenic cephalopod

This paper reports the generation of stable transgenic dwarf cuttlefish expressing fluorescent proteins using CRISPR and transposons, enabling live imaging of cell dynamics during embryonic development.

Double Reduction in Allotetraploid Peanut and the Role of Chromosomal Imbalance in Unexpected Linkage Map Artifacts

The paper constructs a high-density linkage map in allotetraploid peanut to study double reduction, finding it occurs in 12% of progenies and contributes to genomic imbalance and genetic instability.

Efficient genome-wide mapping of reproducible, context-dependent eQTLs at single-cell resolution

The paper introduces Dynema, a method for genome-wide mapping of context-dependent and independent eQTLs at single-cell resolution, showing improved detection compared to pseudobulking approaches.

Mitigating biases of rescaling in forward-in-time population genetic simulations

This study shows that biases in rescaling forward-in-time population genetic simulations can be reduced by using a different simulation algorithm.

An automated genetic screen identifies modulators of stress-induced sleep in Caenorhabditis elegans

The paper identifies genes modulating stress-induced sleep in C. elegans using automated screening and genetic association analysis.

Large language model-based bibliometric evaluation of population descriptors in human genetics

This study evaluates adherence to NASEM recommendations on population descriptors in GWAS papers using a large language model-based toolkit, finding improvements over time but limited impact post-report publication.

Genetic Modeling of Dyadic Behavioral Traits: Implications for Estimation and Interpretation of Variance Components

This study compares dyadic and marginal models for analyzing social interaction traits, showing that dyadic models better estimate genetic and environmental effects while marginal models can introduce bias.

Active and unusually expanded PIF/Harbinger transposable elements in the Caenorhabditis inopinata genome

The paper identifies two PIF/Harbinger transposable element families in C. inopinata, showing differences in amplification timing and mobilisation competence.

Nanopore sequencing identifies a new Tyr::CreERT2 allele circulating in existing mouse stocks

The paper identifies a new Tyr::CreERT2 allele in a mouse stock used for melanoma research through nanopore sequencing and confirms its Mendelian inheritance.

Temporal control of mitochondrial mutagenesis reveals the fate of mtDNA mutations with age

This study shows that mtDNA mutations arising early in life drive age-related pathologies and that mitochondrial fusion modulates their selection, suggesting interventions targeting fusion could slow aging.

Mechanism-selective deep mutational scanning distinguishes ERCC2 disease phenotypes

The paper uses deep mutational scanning to distinguish disease mechanisms in ERCC2 variants, finding that TTD variants have lower fitness than XP variants.