Decoding the genetic landscape of autism spectrum disorder in Indian simplex families by Whole Exome Sequencing

The underlying complex genetics of Autism Spectrum Disorder (ASD) conceals a diverse array of pathological mechanisms that remain to be fully elucidated. While numerous population studies have undertaken extensive exome analyses, identifying hundreds of causal genes, there is limited research specifically examining Indian subjects. Thus, this study aimed to address this gap by performing Whole Exome Sequencing (WES) on Indian familial samples to unravel the genetic burden within Indian autistic families.