De novo mutations in human genetic disease

Volume: 13, Issue: 8, Pages: 565 - 575
Published: Aug 1, 2012
Abstract
New mutations have long been known to cause genetic disease, but their true contribution to the disease burden can only now be determined using family-based whole-genome or whole-exome sequencing approaches. In this Review we discuss recent findings suggesting that de novo mutations play a prominent part in rare and common forms of neurodevelopmental diseases, including intellectual disability, autism and schizophrenia. De novo mutations provide...
Paper Details
Title
De novo mutations in human genetic disease
Published Date
Aug 1, 2012
Volume
13
Issue
8
Pages
565 - 575
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