Fig. 5.
Cell-type specific expression of MD genes. A-D UMAP cell types and expression levels of select genes from the human inner ear atlas[36]. POM: periotic mesenchyme. E Relative average expression in human inner ear atlas cell types for select MD prioritized genes which validated in human databases (genes from Fig. 3A). F Violinplots showing the average percentile expression, per human inner ear atlas celltype, for genes which have any variant in the study cohort (baseline; gray), and for genes in the network + recurrent prioritized set (network_recurrent; green). G MERFISH spatial expression of two genes of interest; Otogl, Col11a1, along with Myo7a to indicate hair cells. Panels show i) low magnification view of the cochlea, and zoomed in expression of genes of interest in the utricle (ii) and organ of Corti at the mid-apical turn(OC) (iii). Scale bar: 250 µm. *** FDR < 0.001, ** FDR < 0.01, * FDR < 0.05, ns not significant; wilcoxon rank sum test, benjamini hochberg correction for multiple tests