Genetic & Genomic MedicineGenome MedicinePeer-reviewed
Cell type-specific contextualisation of the human phenome: towards the systematic treatment of all rare diseases
Brian M. Schilder, Kitty B. Murphy, Hiranyamaya Dash…·Nathan Skene
The paper systematically identifies cell type-specific mechanisms for 86.7% of rare disease phenotypes using transcriptomic data and the Human Phenotype Ontology, with results accessible via an interactive web portal.
DOI 10.1186/s13073-026-01692-0