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…
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…
Genetic variation in transgenerational immune priming and its association with fecundity and body mass in the mealworm beetle Tenebrio molitor
Beetle cultures Tenebrio molitor used in this study originated from an outbred stock culture of more than 100,000…
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.…
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)…
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…
Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes | Orphanet Journal of Rare Diseases
Seven patients (6 males and 1 female) presented with ten episodes of acute encephalopathy, and cerebral edema was…
Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations | Orphanet Journal of Rare Diseases
General principles of nutritional management Early diagnosis and management of IEM are essential. Newborn screening programs for IEM…
ParaRef: a decontaminated reference database for parasite detection in ancient and modern metagenomic datasets | Genome Biology
Blake DP, Betson M. One health: parasites and beyond. Parasitology. 2017;144:1–6. PubMed Google Scholar Coulter JBS. Global importance…