Expression weighted cell-type enrichment (EWCE) analysis was performed with 100000 reps on over 9000 rare disease associated gene sets from the Human phenotype ontology (HPO). The human scRNA-seq data required was obtained from the Descaretes human cell atalas. This allows us to identify the cell types that are significnatly associated with the primary genetic susceptibility for the disease. This site provides resources for retrieving subsets of the results, allowing specialists to make use of findings related to their field of study.
Neurogenomics lab