This study seeks to explain the poor overlap of genome-wide association study and cis-expression quantitative trait locus variants using a model of differential selective constraint, suggesting that these two study types have biases towards different functional classes of variants.

Mouse lineage tracing in regenerating bone marrow after myeloablation shows a dynamic dedifferentiation of mature adipocytes into bone marrow stromal cells. Lipolysis disruption obstructs adipocyte dedifferentiation and hematopoietic stem cell regeneration.

Epigenomic profiling and massively parallel reporter assays identify 892 functional differentially-active single-nucleotide variants (daSNVs) linked to ten neuropsychiatric diseases. CRISPRi and gene editing approaches show magnesium transport dysfunction as a common genetic pathomechanism.

De novo genome assemblies of 12 species from Aurantioideae and pangenome analyses provide insights into the origin and evolution of the orange subfamily and the genetic basis of flavor in citrus fruits.

Multiomic analysis of cervical squamous cell carcinoma identifies distinct cellular ecosystems characterized by immune cell infiltration, heterotypic signaling and patient outcomes.

Multi-ancestry genome-wide association meta-analyses identify risk loci for cannabis use disorder. Genomic structural equation modeling and genetic correlation analyses show overlap with several other traits, including impulsivity and psychopathology.

Phenotype imputation increases the effective sample size of major depressive disorder cases in UK Biobank, enhancing study power and polygenic risk score (PRS) accuracy. A new pleiotropy metric enables assessment of PRS specificity and comparison among different PRS models.

AutoComplete is a deep learning-based method that imputes missing phenotypes in population-scale biobank datasets, increasing effective sample sizes and improving power for genetic discoveries in genome-wide association studies.

Loss-of-function mutations in primate-specific ZNF808 cause pancreatic agenesis. Mechanistically, the loss of ZNF808 leads to the activation of the MER11 family of transposable elements in a regulatory capacity that ultimately induces a liver-specific program of gene expression during pancreatic differentiation.

In pancreatic duct adenocarcinoma, super-enhancer RNAs (seRNAs) have higher N⁶-methyladenosine (m⁶A) levels than in adjacent normal tissue due to upregulation of the METTL3 cofactor CFL1. Aberrant m⁶A seRNAs promote oncogene expression via the YTHDC2–MLL1 complex.

Implementing human genetics research: an itinerary of a researcher from low-income settings.

The preparedness of Africa for genomic medicine remains a matter of debate because this question is always evaluated from a technological standpoint. Yet the resilience of African researchers and the cultural values of equity and fairness are important assets to be considered in planning for the future of genomic medicine in Africa.