Identifying critical lysines in mammalian histone H3 with high-throughput CRISPR prime editing
Adapting prime editing for mammalian histone mutagenesis Mouse canonical histone H3 is encoded by nine H3.1 and three…
Spatially resolved single-cell analyses of human meningioma identify novel cell states influencing tumor microenvironment and progression
Study cohort Our cohort focused on snRNA-seq (n = 102 samples and 580,185 high-quality nuclei) and spatial transcriptomics (Visium HD,…
The promise of adaptive health in the United Arab Emirates and beyond
Department of Medicine, Johns Hopkins University, Baltimore, MD, USA Andrew P. Feinberg Department of Biomedical Engineering, Johns Hopkins…
Pleiotropic effects of cis-regulatory mutations
Wray, G. A. The evolutionary significance of cis-regulatory mutations. Nat. Rev. Genet. 8, 206–216 (2007). Article CAS PubMed …
Evolutionary causes and consequences of gene duplication
Kuzmin, E., Taylor, J. S. & Boone, C. Retention of duplicated genes in evolution. Trends Genet. 38, 59–72…
Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing
Kingsmore SF, Nofsinger R, Ellsworth K. Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care…
Harnessing artificial intelligence to advance CRISPR-based genome editing technologies
Zheng, Y. et al. Precise genome-editing in human diseases: mechanisms, strategies and applications. Signal. Transduct. Target. Ther. 9,…
Health-related quality of life in individuals with osteogenesis imperfecta in the United States: a cross-sectional study | Orphanet Journal of Rare Diseases
Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet. 2004;363(9418):1377–85. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis…
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Institute of Medical Genetics, University of Zurich, Zurich, Switzerland Reza Asadollahi, Paranchai Boonsawat, Dennis Kraemer & Anita Rauch Faculty of Engineering and…
Modeling heterogeneity in single-cell perturbation states enhances detection of response eQTLs
Cohorts We used published data (GEO accession no. GSE162632) to study the effect of 12 h of ex vivo…
AI Human Genetics Platform Mystra Debuts for Drug Discovery, Validation
Officially unveiled at the American Society of Human Genetics (ASHG) 2025 meeting held in Boston, Genomics has launched…
Genotyping sequence-resolved copy number variation using pangenomes reveals paralog-specific global diversity and expression divergence of duplicated genes
Overview of the genotyping method We represent variation as haplotype segments that are short enough to minimize disruption…