Cell type-specific contextualisation of the human phenome: towards the systematic treatment of all rare diseases
Brian M. Schilder, Kitty B. Murphy, Hiranyamaya Dash, Yichun Zhang, Robert Gordon-Smith, Jai Chapman, Momoko Otani, 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.
Genome Medicine · Jun 26, 2026Peer-reviewedGenetic & Genomic Medicine