Fig. 6: Enrichment analysis for lung cancer-associated genes.

a By incorporating scRNA-seq data, cell type-specific enrichment analysis was performed to prioritize lung cancer-related cell types given the identified genes. The top heatmap shows the enrichment score for each gene-cell type pair. Hierarchical clustering was performed. The bottom row shows the significance of the enrichment estimated by the one-sided permutation test (“Methods”). b Implementing the Gene Set Enrichment Analysis (GSEA), we revealed the convergences of lung cancer-associated genes identified by WGS-based study and studies in other design or using other omics data. The heatmap shows the significance (raw p-values) of enrichment between category-specific gene sets identified in the current WGS-based study and the genes reported from the COMIC CSC gene list (with the prefix “cosmic”), GWAS catalog (with the prefix “GWAS”), differential gene expression analysis between tumor and normal lung tissues (up denotes a higher expression level in tumor samples), TWAS from blood and lung tissues, and somatic copy number variations in lung cancer samples (b). The WES-based UK Biobank gene-centric results were also included.