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The paper fine-tunes a sequence-to-function model on large proteomic data to improve variant effect prediction, showing better performance with larger sample sizes and rare variants.

The paper identifies 70 miRNAs, including novel candidates, involved in ASD by analyzing genomic variants and their regulatory networks.

This study investigates the role of SppA in Flavobacterium columnare, showing it is essential for virulence, membrane homeostasis, and biofilm formation.

The paper establishes urine-derived stem cells (USCs) as a non-invasive source for chondrogenesis, revealing cell hierarchy and differentiation trajectories through single-cell RNA sequencing.

This study analyzes transcriptomes of Atlantic salmon gonad and pituitary tissues to identify novel genes and lncRNAs involved in sexual maturation and their regulatory roles.

This study performs a genome-wide association study to identify genetic variants linked to DMI fungicide sensitivity in Fusarium graminearum, finding numerous small-effect variants and common QTNs for two fungicides.

This study identifies candidate genes for IPN resistance in rainbow trout using a high-density genome-wide association study and Bayesian modeling.

The paper identifies disease-linked regulatory DNA variants and their impact on epidermal homeostasis by analyzing SNVs, TF binding, and gene dysregulation in polygenic skin diseases.

The paper investigates how variants in OCA2 exon 10 affect splicing and pigmentation, showing that some variants increase exon skipping and contribute to hypopigmentation.

The paper shows maternal CENP-C restores centromere symmetry in zygotes by asymmetrically recruiting to paternal centromeres, ensuring proper chromosome segregation.

The paper generates a Ym1 deficient mouse using CRISPR-Cas9 in CB6 embryos and validates the absence of Ym1 protein without affecting related chitinase genes.

This paper reviews genetic diversity estimates of rare UK livestock breeds, finding gaps in DNA-based measures and discrepancies between census and DNA-based Ne estimates.

The paper identifies monocyte subsets associated with clinical outcomes in fibrotic hypersensitivity pneumonitis using single-cell RNA sequencing.

The paper quantifies mutation bias in driver genes to estimate the number of driver mutations and their effect distribution across oncogenes and tumor-suppressor genes.

This study investigates how genetic variation affects phenotypic responses to diet and aging in Drosophila melanogaster, finding significant genotype-by-diet and genotype-by-age interactions.

The paper estimates genetic assortative mating using haplotype reconstruction in large biobank cohorts, revealing recent trends in mate choice and its genetic impact.

This paper identifies sulp-4 as a critical gene controlling xanthine stone accumulation in C. elegans by mediating sulfate transport, and shows its interaction with sulfur amino acid metabolism and osmotic stress pathways.

The paper identifies an epigenetic mechanism in bronchial epithelial cells that enables trained immunity through chromatin remodeling and gene expression changes following flagellin exposure.

This study uses RNAseq to assess off-target effects of three splice-switching AONs in human cells, identifying splicing changes and showing variability in AON-induced effects.

The paper investigates ORC6 mutations in Meier-Gorlin syndrome using a humanized Drosophila model, showing that truncated ORC6 proteins fail to rescue orc6 deletion and that a strong Kozak sequence enables translation from a non-canonical ACG start codon.