Genetic & Genomic MedicineNature CommunicationsPeer-reviewed
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
Arthur S. Lee, Lauren J. Ayers, Michael Kosicki…·Elizabeth C. Engle
The paper develops a cell type-aware framework to identify non-coding variants in Mendelian disorders by integrating single-cell multi-omic data and applying it to congenital cranial dysinnervation disorders.