AI-based multimodal integration of genomics and electronic health records
Menachemi, N. & Collum, T. H. Benefits and drawbacks of electronic health record systems. Risk Manag. Healthc. Policy…
Translating genomic data into healthcare practice with the Singapore National Precision Medicine program
Precision Health Research, Singapore (PRECISE), Singapore, Singapore Shih Wee Seow, Clement Qiwen Sin, Denise Xin Yi Chua, Emily Shu Fang Lau, Gloria…
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…
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…
Telomere-to-telomere genome assemblies and population resequencing of diploid and allotetraploid peanut varieties
Assembly and annotation of six representative peanut genomes To determine the genome structure and genetic diversity of A.…
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…
Genotyping sequence-resolved copy number variation using pangenomes reveals paralog-specific global diversity and expression divergence of duplicated genes
Constructing the pangenome-derived allele databaseSearch and extraction of initial genes of interest from pangenome assemblies Our pangenome cohort…
Redefining cellular reprogramming with advanced genomic technologies
Briggs, R. & King, T. J. Transplantation of living nuclei from blastula cells into enucleated Frogs’ eggs. Proc.…
Meta-analysis reveals differences in somatic alterations by genetic ancestry across common cancers
Genetic ancestry is a quantitative measure of inherited genetic variation and correlates with human migration patterns1. It contributes…
Characterization of induced cohesin loop extrusion trajectories in living cells
Experiments performed in this study did not require ethics board approval. Cell culture HAP1 cells were cultured in…
Population-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health
To identify genes associated with either adult BMI or T2D risk, we performed association testing using WGS data…