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…
A tetraploid wheat pangenome reveals genomic variation and domestication footprints
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. This…
How parents decide whether to have genomic newborn screening: experiences from BabyScreen+
ParticipantsParticipation in BabyScreen+ and gNBS A total of 1139 participants consented to BabyScreen+ research, regardless of whether they…
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…
A multi-dimensional framework for establishing and managing a genomic newborn screening program
The above-described methodology resulted in a multi-dimensional framework for a gNBS program consisting of 18 screening criteria (Table 1)…
Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty | Orphanet Journal of Rare Diseases
Debuf MJ, Benoit V, Cassart M, Gajewska K, Gauquier N, Meunier C, et al. Agenesis of olfactory bulbs:…
X-LDR: an atlas of linkage disequilibrium across species | Genome Biology
Overview of the studyDatasets The study surveyed human and nonhuman samples (Table 1). Human samples included 1KG samples, unrelated…
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…
Redefining cellular reprogramming with advanced genomic technologies
Briggs, R. & King, T. J. Transplantation of living nuclei from blastula cells into enucleated Frogs’ eggs. Proc.…