Genetic insights into infertility from large-scale analyses
World Health Organization. Infertility Prevalence Estimates, 1990–2021 (WHO, 2023). Venkatesh, S. S. et al. Nat. Genet. https://doi.org/10.1038/s41588-025-02156-8 (2025).…
GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations
Here, we report variants affecting GJA8 in 22 individuals from 15 new families, including 11 missense variants predicted…
Oryza genome evolution through a tetraploid lens
Tanksley, S. D. & McCouch, S. R. Seed banks and molecular maps: unlocking genetic potential from the wild.…
Spatial transcriptomics identifies molecular niche dysregulation associated with distal lung remodeling in pulmonary fibrosis
Participants and samples The studies described here comply with ethical regulations as approved under local institutional review boards,…
Evaluating the COVID-19 responses of Belgium, Denmark, Germany, the Netherlands, Sweden, and the United Kingdom, February–June 2020: a counterfactual modeling study | BMC Medicine
This analysis quantifies the potential impact of different pandemic responses on COVID-19 mortality in six Northwestern European countries…
Integrating the environmental and genetic architectures of aging and mortality
Study design and participants The UKB is a prospective cohort study with extensive genetic and phenotype data available…
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy
More than 4,000 genes have been established as etiological for a rare disease, of which only 69 are…
Pan-genome analysis reveals the evolution and diversity of Malus
The Malus evolutionary genomic landscape We sequenced accessions from 30 species, de novo assembled high-quality genomes and anchored…
Advances in single-cell DNA sequencing enable insights into human somatic mosaicism
Bizzotto, S. et al. Landmarks of human embryonic development inscribed in somatic mutations. Science 371, 1249–1253 (2021). Article …
Pan-genomic analysis highlights genes associated with agronomic traits and enhances genomics-assisted breeding in alfalfa
Annicchiarico, P., Barrett, B., Brummer, E. C., Julier, B. & Marshall, A. H. Achievements and challenges in improving…