期刊
NATURE REVIEWS GENETICS
卷 13, 期 8, 页码 565-575出版社
NATURE RESEARCH
DOI: 10.1038/nrg3241
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资金
- Netherlands Organization for Health Research and Development [917-66-363]
- European Research Council [281964]
- European Research Council (ERC) [281964] Funding Source: European Research Council (ERC)
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.
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