Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder

摘要

Study workflow. The study included six phases: (1) genetic data collection, (2) identification and annotation of inherited variants, (3) burden analysis, (4) prioritization of ASD-associated RIGs, (5) RIG/DNG functional network analysis, and (6) RIG/DNG brain-expression analysis. ASD, autism spectrum disorder; Dmis, deleterious missense variants; DNGs, genes with de novo variants; PTVs, protein truncating variants; RIGs, recessive inherited genes