alexa De novo mutations in human genetic disease.
Pathology

Pathology

Journal of Clinical & Experimental Pathology

Author(s): Veltman JA, Brunner HG

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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 a mechanism by which early-onset reproductively lethal diseases remain frequent in the population. These mutations, although individually rare, may capture a significant part of the heritability for complex genetic diseases that is not detectable by genome-wide association studies. This article was published in Nat Rev Genet and referenced in Journal of Clinical & Experimental Pathology

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