Genetic variation articles from across Nature Portfolio

Stroke is a multifactorial disease influenced by genetic and environmental factors. Here, the authors apply exome-wide association analysis to find rare coding variants associated with stroke in a Pakistani cohort, finding a significant association of a variant in NOTCH3 that is highly enriched in South Asians.

Analyses focusing on protein-truncating variants from 106,973 women from in the UK Biobank identify variants in genes that reinforce the link between reproductive lifespan in women and cancer risk in both sexes.

Clonal hematopoiesis of indeterminate potential (CHIP) is linked to diverse aging-related diseases but the underlying factors driving its development are largely unknown. Here, longitudinal assessment of 4,187 participants over 21 years provides insights into cell-intrinsic and -extrinsic factors contributing to the development and progression of CHIP clones in older adults.

The Impact of Genomic Variation on Function Consortium is combining single-cell mapping, genomic perturbations and predictive modelling to investigate relationships between human genomic variation, genome function and phenotypes and will provide an open resource to the community.

The impact of structural variation on the evolution of the amylase genes is explored using human pangenome resources and ancient DNA data.

Desiccation tolerance evolved multiple times across the land plants for survival in water-limited habitats. We find that desiccation tolerance evolved convergently in grasses by independent duplication of the same gene family and activation of conserved, ancestral protective pathways.

Petrazzini et al. leverage exome sequencing data and a novel machine learning-based marker to identify rare and ultra-rare coding variants associated with coronary artery disease.

Tandem repeats are ubiquitous in the human genome and hold crucial information about our genetic diversity, evolution and susceptibility to disease.

Logsdon et al. report the second complete sequence of all centromeres from a single human genome, enabling comparative analyses of the variation in tandemly repeating α-satellite DNA.