Browse our latest Genetics and Genomics articles

Numerous related sample characteristics affect polygenic score performance, and incorporation of interaction effects increases both model and polygenic score performance.

Global analyses using aneuploid Drosophila revealed the dynamic roles of RNA m⁶A modification in regulating gene expression and development under genomic imbalance, highlighting its potential relationships with dosage-related effects.

The DYRK1A enzyme is a pivotal contributor to frequent and severe episodes of otitis media in Down syndrome, positioning it as a promising target for therapeutic interventions.

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.

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