Exome Sequencing in an Ancestrally Diverse Autism Cohort

Autism spectrum disorder (ASD) is a collection of neurodevelopmental disorders manifested by impaired social communication, repetitive behaviors, and restricted interests. We performed whole exome sequencing (WES) on a total of 754 individuals from 195 families, including 222 probands with ASD, from diverse ancestral backgrounds. We identified potentially pathogenic variants in known and novel ASD or neurodevelopmental disease genes.]]>
Study methods and data collectionInclusion criteria included a diagnosis of autism spectrum disorder (ASD) by a neurologist, child psychiatrist, or psychologist. Patients with genetically defined syndromes, specifically Fragile X syndrome, Angelman syndrome, Rett syndrome, or Tuberous sclerosis complex, were excluded from study participation.]]>