Bridging behaviour and genomics for tsetse fly control
Tsetse flies (genus Glossina) are the sole biological vectors of African trypanosomes, a group of protozoan parasites that…
Benchmarking deep learning methods for biologically conserved single-cell integration | Genome Biology
A unified benchmarking framework for single-cell integration To systematically evaluate various loss functions, we established a unified benchmarking…
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…
Clinical burden and healthcare resource utilization associated with achondroplasia: a real-world observational, retrospective cohort study | Orphanet Journal of Rare Diseases
Patient characteristics Overall, 626 people living with achondroplasia were matched with 3,130 people in the control cohort (Fig. 1).…
GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications | Orphanet Journal of Rare Diseases
We identified 98 individuals with pathogenic or likely pathogenic GRIN2B variants from 23 publications [11, 16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37]. Additionally, we…
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…
Twenty years of genome-wide association studies: Health translation challenges and AI opportunities
Southam L, Zeggini E. Twenty years of genome-wide association studies. Nature. 2025;641:47–9. Article PubMed CAS Google Scholar Klein…
Redefining cellular reprogramming with advanced genomic technologies
Briggs, R. & King, T. J. Transplantation of living nuclei from blastula cells into enucleated Frogs’ eggs. Proc.…