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.
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