Extended Data Fig. 5: GREAT and FUMA analyses showing enrichment for craniofacial and limb development.
From: Insights into the genetic architecture of the human face
a, GREAT analysis. For the top ten GO terms in each category, plotted is the binomial test Bonferroni-corrected P value (red; negative values) and binomial region fold enrichment (blue; positive values). Behind every GO term, in parentheses we indicate the number of genes in the test set with the annotation (Observed) and the total number of genes in the genome with the annotation (Total), with the format (Observed/Total). Dashed line represents significance at P = log10(0.05) = -1.3. b, FUMA analysis, indicating the KEGG pathways that were significantly enriched in our results. Multiple pathways are relevant for craniofacial development. The right panel shows the genes that are involved in the pathways.
