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Article

Prevalence and architecture of de novo mutations in developmental disorders.

Nature - 23 Feb 2017

Abstract excerpt

The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here we have sequenced the exomes of 4,293 families containing individuals with developmental disorders, and meta-analysed these data with data from another 3,287 individuals with similar disorders. We show that the most important factors influencing the...

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PMID: 28135719
DOI: 10.1038/nature21062
PMCID: PMC6016744

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