Local Research

ASD Genetics

Venn diagram depicting the comparison of copy number variations CNVs in autism patients (red circle), healthy controls (blue circle), and those with developmental delay/ intellectual disabilities, DD/ID (green circle). CNVs identified in autism patients are listed in the figure. Benign CNVs are in black. Pathogenic CNVs, likely pathogenic CNVs and CNVs of unknown significance are in red.


Pathway Studio analysis of 16 potential candidate genes. A biological network was created to identify biological functions and disorders associated with potential candidate genes selected from pathogenic and likely pathogenic Copy Number Variations (CNV), and from CNVs of unknown significance. 16 genes were found to be involved in direct interactions. 3 functional sub-networks were detected: nervous system functions are highlighted with a blue halo; components immune responses are highlighted with a red halo; mitochondrial dysfunction and DNA repair components are highlighted with a green halo. Green arrows show possible direct interactions between genes.