News Finding: 112 authors find "an extreme degree of etiological heterogeneity" in autism  Autism Genome Project rare CNV study
Paper Finding: Taken together, our results suggest that rare variants affecting ASD risk in the population collectively encompass hundreds of genes.
News Context: 112 authors find "an extreme degree of etiological heterogeneity" in autism  Autism Genome Project rare CNV study
Paper Context: Whereas the majority of the 97 genes in the CNV or SNV network (not including the genes already known to be involved in ASD) most likely act via haploinsufficiency, a few are affected by duplications. Our findings implicate many ASD candidate genes altered by de novo, inherited, or X-linked CNVs (e.g., SETD5, miR137, and HDAC9 [MIM 606543]; Supplemental Data section ''Highlighted Genes'') or altered by both de novo CNVs and LoF SNVs (e.g., RIMS1, TRIP12, and DLL1; Figures 4B and 5 ). Taken together, our results suggest that rare variants affecting ASD risk in the population collectively encompass hundreds of genes.