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fSuSiE improves fine-mapping of QTLs by modeling spatial genetic effects on molecular traits, achieving higher resolution in identifying causal variants and their molecular targets.

The paper develops a method to estimate enzymatic activities from genetic variants using fitness assays and combines allele effects to predict pathogenicity in recessive diseases.

The paper assesses two multiplexing strategies for CRISPR/Cas9-based gene drives in Anopheles stephensi to overcome target site resistance.

The paper identifies a non-canonical BRCA2 variant in moss that promotes homologous recombination and binds ssDNA without a canonical DNA binding domain.

The paper identifies genomic loci regulating Factor V expression in hepatocytes and megakaryocytes of mice using QTL analysis across multiple strains.

The paper analyzes transcriptomics and metabolomics data from coarse and fine cashmere goats to identify genes and metabolites associated with fiber diameter differences.

The paper shows that disrupting TAD boundaries in the Slc29a3/Unc5b locus causes tissue-specific transcriptional changes in multiple genes.

The paper analyzes TP53 mutation patterns across 27 cancer types using data from 10,967 tumor samples, finding missense mutations are most common and mutation burdens vary by cancer type.

This study shows that Tep3 limits macrophage attachment to damaged and transformed epithelia by inhibiting MMP1 proteolytic activity, reducing BM DAMP production and promoting tumor progression.

The paper presents a Yersinia pestis genome from a Bronze Age sheep, showing it belongs to a lineage previously only found in ancient humans and suggests transmission via livestock.

The paper identifies Neurexin-2 downregulation in a mouse model of PMM2-CDG and shows it can be reversed by AAV9-PMM2 gene treatment.

This study identifies shared genetic loci between psychiatric disorders and cortical brain structure using genome-wide association data from over 700,000 individuals.

This study identifies rapunzel5 as essential for hematopoietic stem and progenitor cell development in zebrafish, affecting erythroid and myeloid differentiation.

EpiPred improves STXBP1 variant interpretation, enabling precision genetic diagnoses and promoting access to targeted precision therapies.

This study creates a zebrafish adamtsl4 knockout model that recapitulates key human ADAMTSL4-related disease features, including ocular and skeletal abnormalities, and shows its role in ECM organization and development.

The paper uses synthetic enhancer engineering in mESCs to show that enhancer clusters increase transcriptionally productive enhancer-gene contacts through enhanced RNA Polymerase II pause release.

This study identifies non-vocal motor deficits in a Gnptab transgenic mouse model, linking lysosomal dysfunction to stuttering-related motor impairments.

The paper shows JNK and JAK/STAT signaling cooperate to activate damage-responsive enhancers, enabling spatially regulated gene expression for tissue regeneration in Drosophila.

This study uses a zebrafish model to identify genetic dependencies in melanocyte and melanoma development, revealing that gene loss can paradoxically promote aggressive phenotypes.