Article

Refining the role of <i>de novo</i> protein truncating variants in neurodevelopmental disorders using population reference samples

2016-05-12

Abstract excerpt

Recent research has uncovered an important role for de novo variation in neurodevelopmental disorders. Using aggregated data from 9246 families with autism spectrum disorder, intellectual disability, or developmental delay, we show ~1/3 of de novo variants are independently observed as standing variation in the Exome Aggregation Consortium’s cohort of 60,706 adults, and these de novo variants do not contribute...

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Literature Corpus work: 3dd1de1e-d94f-562f-a94c-8830905045b6
DOI: 10.1101/052886

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