Browse our latest Genetics and Genomics articles

PIK3R1 mutations that cause immunodeficiency through PI3-kinase hyperactivation also cause SHORT syndrome, due to PI3-kinase hypofunction, attributable to PI3-kinase destabilisation and outcompetition by mutant PIK3R1.

Crispant analysis in zebrafish serves as a powerful tool for the rapid functional screening of genes implicated in bone fragility disorders, like osteogenesis imperfecta and osteoporosis.

Integration of GWAS summary statistics with extensive 3D genomic datasets generated in a myriad of different cell types provides genomic insights into pediatric obesity pathogenesis.

Significant technical improvement in single-nucleus RNA-seq reveals distinct adipocyte subpopulations that respond differently to obesity, including those undergoing adaptive healthy expansion and others displaying severe dysfunction.

Epigenomic and transcriptomic analysis reveals that paternal obesity influences sperm histone H3 lysine 4 tri-methylation enrichment and placenta gene expression, which in turn negatively impact its development and function in a manner that may contribute to metabolic disease in offspring.

DNA sequencing of the yerba mate (Ilex paraguariensis) genome reveals convergent genomic changes, biochemical pathways, mutations, and substrate-binding orientations responsible for caffeine biosynthesis when compared to coffee and tea plants.

High-throughput animal tracking and quantitative behaviour analysis detects diverse phenotypes in genetic disease models at a scale that makes drug screens possible.

A novel statistical framework and approach using sibling phenotype pairs allows inference of genetic architecture in the tails of complex traits to be made without genetic data.