Figure 5. Gene enrichment of de novo damaging variants in cell type clusters implicated in single-cell and spatial transcriptomics.

Color of the bars reflects the enrichment among the Chinese only (left; orange) or European only (right; teal) analyses. (A) Human embryonic cardiac cell types identified by single-cell RNA sequencing from Figure 3 in Asp et al. (24); (B) clusters of the anatomical embryonic cardiac regions of spatial transcriptomic data from Figure 2 in Asp et al. (24); (C) cell type clusters identified by single-cell RNA sequencing of in vitro human embryonic stem cell cardiac differentiation in Mononen et al. (25); (D) cell type clusters from human embryonic/fetal heart–derived single-cell RNA sequencing in Sahara et al. (26). Cell types with significant enrichment of DNMs (P < 0.01; dotted lines) are highlighted in bold. Numbers in parentheses indicate the total number of genes analyzed in each category/cluster.