Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

Jonathan Sebat and colleagues explain how they tested their hypothesis that hypermutability is a property of genes implicated in autism spectrum disorders (ASD). The authors used whole-genome sequencing of monozygotic twins with ASD and their parents to show that mutation hot spots exist and are a significant factor shaping patterns of genetic variation and disease risk in humans.