Prevalence and architecture of de novo mutations in developmental disorders
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DOI: 10.1038/nature21062
Abstract: 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,… read more here.
Keywords: developmental disorders; novo mutations; prevalence architecture; mutations developmental ... See more keywords