Fig. 1

Overview of the analysis. This study shows the analysis of DNVs and RAVs in 116 families with serotonin measurement. The major steps are shown in the middle (green). The analysis steps identifying ASD-related signals used the whole DNV/RAV list (yellow). The steps identifying 5HT-related signals in ASD used DNVs/RAVs in High-5HT vs. Normal-5HT groups (blue). ACE, Autism Center of Excellence; DNV, de novo variant; RAV, recessive acting variant; LoF, loss of function; GSEA, Gene Set Enrichment Analysis; NGSEA, Network-based Gene Set Enrichment Analysis; 5HT, 5-hydroxytryptamine; TADA, a list from a recent study of both transmitted and de novo variants in ASD [11]; CH, compound heterozygote; Hz, homozygote