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The paper identifies and functionally characterizes BMP2 variants in congenital heart disease using in vitro and in silico methods, showing increased pathway activity.

The paper identifies UCA1 lncRNA as a ceRNA that sequesters miR-148b, increasing BCL11A expression and reducing γ-globin levels in adult erythroid cells.

The paper develops a nonradioactive assay combining selenocystine fluorescence and AlphaFold for diagnosing cystinuria mutations and analyzing their functional impacts.

The paper reports the first high-quality nuclear and complete mitochondrial genome assemblies of a clinical Wickerhamomyces anomalus isolate, revealing genomic rearrangements linked to virulence and adaptation.

The paper investigates how genotype-by-environment interactions influence the ubiquitin-proteasome system activity in yeast by analyzing genetic effects across different environments and substrates.

The paper compares PCA-based QTL mapping with individual trait hotspots in metabolomic and transcriptomic data from a recombinant inbred line, finding they identify different genomic regions and genetic architectures.

This study investigates whether amino acid substitutions in the Na+/K+-ATPase contribute to salt tolerance in insects using gene-edited Drosophila models, finding that some substitutions enhance tolerance while others do not.

The paper introduces randPedPCA, an R package for rapid PCA of large pedigrees using sparse matrices and randomised linear algebra, demonstrating its efficiency on simulated and real datasets.

This paper introduces localGEBV, a haplotype-based method that improves QTL discovery and phenotypic prediction compared to traditional GWAS approaches in barley.

This study identifies ZC3H11A mutations as a cause of high myopia in humans and mice, showing their impact on PI3K-AKT and NF-κB signaling pathways.

This study links the developmental expression of risk genes to the age of onset of neuropsychiatric disorders, showing that disease peaks align with gene expression peaks in the prefrontal cortex.

The paper uses deep mutational scanning in yeast to analyze residue interactions in the RNA Polymerase II trigger loop, revealing its functional and evolutionary constraints.

The paper derives a new sampling formula for the number of mutations in a genealogy under different population models, improving numerical accuracy and efficiency.

This study identifies Rv3204 as an m4C DNA methyltransferase essential for Mycobacterium tuberculosis survival under oxidative stress, showing its role in ROS homeostasis and antibiotic susceptibility.

This study identifies proteasome factors as contributors to heart development and congenital heart defects using a systems genetics approach combining transcriptomics, PPI networks, and CRISPR screening in zebrafish.

The paper identifies potential Denisovan fossils by comparing cranial specimens to predicted Denisovan morphology using genetic phenotyping.

This paper introduces RENDER, a method for transient delivery of CRISPR-based epigenome editors as ribonucleoproteins to modulate gene expression in human cells, achieving durable epigenetic silencing.

The paper integrates genetic, transcriptomic, and structural data to show that Ca2+ dysregulation via ATP2B2 missense variants contributes to neuropsychiatric disorders.

The paper identifies NUC-1 as a bifunctional transcription factor regulating phosphate starvation response in Neurospora crassa, with NUC-3 acting as a brake on the response during prolonged starvation.

This study examines genetic diversity and host association in Scottish freshwater pearl mussels, finding strong genetic differences between salmon- and trout-specialist populations with implications for conservation.