Identifying genomic variations in monozygotic twins with discordant autism using whole-genome sequencing

Autism spectrum disorders (ASDs) present a set of childhood neurodevelopmental disorders with impairments in social communication and restricted, repetitive, and stereotyped patterns of behavior. Here, according to three monozygotic twins with discordant autism using whole genome sequencing, we explore patient-specific genetic variations and prioritize a list of ASD-risk genes. Our results present patient-specific 14310 SNPs, 2425 InDels and 16735 CNVs in two of three monozygotic twins, involving 823 genes from SNVs, 557 genes from InDels and 1174 genes from CNV regions. Finally, we get a total of 2174 genes, 37 of these are covered by all three types of variations. GO enrichment analysis of biological process for 2174 genes shows that the majority of candidate genes were related to neurodevelopmental process. Functional network analysis of 37 genes presented in three types of variation showed that they has a functional relevance. In conclusion, we primarily reported the full detection of genomic differences between monozygotic (MZ) twins discordant for autism. Promising results indicate that WGS could eventually help direct personalized approaches to clinical management in individuals and families affected by ASD.