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. 2020 Mar 12;10:4569. doi: 10.1038/s41598-020-61288-5

Figure 4.

Figure 4

Pathway analysis of genes highlighted by forecASD. When testing the top-decile genes according to forecASD for Reactome pathway enrichment, pathways emerged that were represented, but not enriched in the SFARI HC list (a). In panel a, for each pathway, the top bar represents the number of genes (number) and the enrichment (color) for that pathway in top decile forecASD genes, while the bottom represents the enrichment for that pathway in SFARI HC genes. Other pathways were highly enriched in forecASD genes that were not represented at all in the SFARI HC list, even though they have associated literature suggesting a role in autism (b). forecASD is more sensitive than SFARI HC to pathways that are differentially regulated in the brains of individuals with autism, particularly in ASD-upregulated pathways (c), but also in downregulated pathways (d). Using the top decile of TADA (− log10 FDR) genes showed similar sensitivity to SFARI HC (not shown), suggesting that rare variant approaches may be less sensitive in implicating genes found through gene expression studies.