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…
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…
iNOME-seq: in vivo simultaneous genome-wide mapping of chromatin accessibility, nucleosome positioning, DNA-binding protein sites, and DNA methylation in Arabidopsis | Genome Biology
Plant lines and growth conditions The plant lines used in this study were derived from A. thaliana wild-type…
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
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.…