Next Generation Sequencing in Autism Spectrum Disorder

Abstract

Autism spectrum disorder is a clinically heterogeneous condition, characterized by social deficits, language impairment, repetitive behaviors, and restricted interest. Autism displays significant genetic heterogeneity. In the past one and a half decades, next generation sequencing has enabled identification of many variants that predispose to autism. These discoveries have improved understanding of the disease etiology of autism spectrum disorder. In this review article, we will address how development of next generation sequencing has helped answer the following questions: 1. What are the modes of transmission/inheritance of autism? 2. What is the nature of genetic mutations that contribute to autism? 3. Why is there a higher prevalence of autism in males than females?