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Article

Prevalence, phenotype and architecture of developmental disorders caused by <i>de novo</i> mutation: The Deciphering Developmental Disorders Study

2016-04-20

Abstract excerpt

Individuals with severe, undiagnosed developmental disorders (DDs) are enriched for damaging de novo mutations (DNMs) in developmentally important genes. We exome sequenced 4,293 families with individuals with DDs, and meta-analysed these data with published data on 3,287 individuals with similar disorders. We show that the most significant factors influencing the diagnostic yield of de novo mutations are the se...

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Literature Corpus work
b9cb3fda-4956-5b1e-ad8e-2d27ce9d89f4
DOI
10.1101/049056
Open publication

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