One but not the same — the many genomes of the brain
The human brain exhibits enormous complexity, with many thousands of cell types performing specialized functions that provide the…
Deciphering the longitudinal trajectories of glioblastoma ecosystems by integrative single-cell genomics
Experimental method detailsHuman participants and ethical approval Frozen GBM specimens that were diagnosed as ‘glioblastoma, IDH-wildtype’ according to…
The multilayered transcriptional architecture of glioblastoma ecosystems
Participants and ethical approval Frozen GBM specimens, diagnosed as ‘glioblastoma, IDH WT’ according to the WHO 2021 classification,…
Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations
Isogenic model for TP53 mutagenesis by CRISPR-HDR To assess the functional impact of TP53 variants in a controlled…
Human subcutaneous and visceral adipocyte atlases uncover classical and nonclassical adipocytes and depot-specific patterns
Human fat depot-specific adipocyte atlases To generate hSAT and hVAT depot-specific human adipocyte atlases, we performed single-nucleus RNA…
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).…
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,…
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…