Figure 3. GO cluster network enrichment in candidate genes with damaging variants in 146 Chinese TOF trios.

Genes with damaging variants, including all genes with de novo or recessive loss-of-function (LoF) and damaging missense (CADD > 20) variants, and selected candidate genes encompassed by de novo coding deletions were included in the gene set enrichment analysis. The nodes represent GO terms that were statistically significant after multiple-testing correction (FDR) (q < 0.1). Similar GO terms (similarity score > 0.3) were grouped as clusters (circles), and within each cluster only the top 10 GO terms with the most significant q values are shown (full results in Supplemental Table 9). The size of the nodes represents log₁₀(q value) of the GO terms. Color gradient of the nodes reflects the enrichment and that of the edges represents the level of similarity between the enriched GO terms.