Whole genome analysis in autism and related disorders

Autism spectrum disorder (ASD) is a heterogeneous collection of neurodevelopmental conditions characterized by deficits of social interaction and communication, and presence of restricted and repetitive behaviors. De novo mutations play an important role in the etiology of ASD, but analyses so far have focused mainly on the protein coding regions of DNA, which account for only ~1% of the genome. I will present my work on using whole genome sequencing technology to characterize the contribution of both coding and non-coding variants to the etiology of ASD and other related disorders