Article

Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders

2018-02-02

Abstract excerpt

<h4>Summary</h4> De novo mutations (DNMs) in protein-coding genes are a well-established cause of developmental disorders (DD). However, known DD-associated genes only account for a minority of the observed excess of such DNMs. To identify novel DD-associated genes, we integrated healthcare and research exome sequences on 31,058 DD parent-offspring trios, and developed a simulation-based statistical test to ident...

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Literature Corpus work: a125d43f-2262-539e-80eb-7594bd1c34c1
DOI: 10.1101/258723

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